characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected father is GM09009A;mother is GM08985;affected brother is GM08993A;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

characteristic: family id

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1 gene

text: Retinitis pigmentosa 1

text: GM09780 female affected RP1 sample


status: PUBLIC

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 71 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Itlian;Scottish

characteristic: ethnicity

text: husband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: ND19971 male unaffected Control sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected spouse is GM09785;last examined in 1989

characteristic: description

characteristic: family id

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM09781 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Progressive supranuclear palsy

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND19978 male affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Retinitis pigmentosa 1

text: 31 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deceased father was affected;mother is GM09755;spouse is GM09776;questionably affected daughter is GM09777;affected brother is GM08962;sisters are GM09756 & 09758;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: brother-in-law

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM09782 male affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: 64 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND19979 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;spouse is affected;affected daughter is GM09760;son is GM09766;spouse is half-sib of GM09002 (same affected father);donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: Retinitis pigmentosa 1

text: GM09783 female unaffected Retinitis pigmentosa 1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND19993 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;father is GM09754;mother is GM10144;brother of GM09767 & 10145;paternal grandfather was affected;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM09784 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20008 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Symptomatic;deceased father was affected;spouse is GM09781;mother is GM08980A;sister is GM08992A;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM09785 male affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20010 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected grandchildren are GM09296 and GM09297.

text: ASHKENAZI

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: GM09786 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: HEXA

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Variant;parents carry 2 different mutations;modified & slower onset than typical Tay-Sachs;absent hexosaminidase A activity as judged by MUGS assay;46;XX in peripheral blood lymphocytes;;donor subject is heterozygous for a G>A splice site mutation in intron 9 of the HEXA gene (IVS9+1G>A)

text: HEXA

characteristic: gene

characteristic: mutation

text: G>A

text: Homo sapiens

text: Caucasian

text: Female

text: Tay-sachs disease

characteristic: tag

text: Hexosaminidase a

text: TSD

text: HEXA

text: Aspartoacylase

text: ASPA

text: GM09787 female affected HEXA sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND00609 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 30 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected child is GM09790;spouse of GM09749.

characteristic: description

text: ASHKENAZI

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: GM09788 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND00610 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: IKBKAP

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Hirschsprung's disease diagnosed at 3 days of life;poor feeding and poor suck in neonatal period;poor oral coordination;breath holding;facial expressivity somewhat diminished;decreased swallowing of saliva and drooling;skin blotching;alacrima;no corneal problems;no nystagmus;slight alternating exotropia;high arched palate;no fungiform papillae on tongue;no scoliosis or kyphosis;no cyanosis;absent deep tendon reflexes;spotty loss of pain sensation;slight hypotonia;below 3rd percentile for height and weight;no vomiting;recurrent pneumonia;febrile seizure;affected sister is GM09792;father is GM09791;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA

text: ASHKENAZI

characteristic: ethnicity

text: proband

text: IKBKAP

characteristic: gene

characteristic: mutation

text: T>C

text: Homo sapiens

text: Caucasian

text: Male

text: Inhibitor of kappa light polypeptide gene enhancer in b cells

characteristic: tag

text: Neuropathy, hereditary sensory and autonomic type iii

text: Hirschsprung disease

text: Kinase-complex associated protein

text: IKBKAP

text: GM09789 male affected IKBKAP sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND00611 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 5 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosis confirmed at 26 months;alacrima;lack of axon flare on histamine test;miosis of the pupil following instillation of pilocarpine;lack of lingual fungiform papillae;absent deep tendon reflexes;hyperhidrosis;gastroesophageal reflux;less then 5th percentile for height and weight;no skin mottling;developmental milestones mildly delayed;no tongue thrusting;pneumonia;mild esotropia;affected first cousins are GM05105;GM05106;father is GM09749;mother is GM09788;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA

characteristic: description

text: ASHKENAZI

text: paternal cousin

text: IKBKAP

text: T>C

text: Homo sapiens

text: Caucasian

text: Male

text: Kinase-complex associated protein

text: IKBKAP

text: GM09790 male affected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND00613

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

text: ND00612 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected children are GM09789 and GM09792;son of GM09707.

text: ASHKENAZI

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM09791 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND00612

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND00613 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed in first week of life;birth weight 5 lbs 3.75 oz;poor feeding in neonatal period;decreased deep tendon reflexes in neonatal period;absent deep tendons reflexes at 8 weeks of age;absent lingual fungiform papillae;no flare response on histamine test;below 3rd percentile for height and weight;mottled skin;high;arched palate;straight back;no vomiting;air swallowing;affected brother is GM09789;father is GM09791.

text: ASHKENAZI

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM09792 female affected Neuropathy, hereditary sensory and autonomic type iii sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 87 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Mother of an affected son (ND00399) and an unaffected son (ND00615)

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND00614 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;3 affected grandchildren are GM08894;GM08895 and GM08896.

characteristic: description

text: ASHKENAZI

text: paternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: GM09793 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected brother is ND00399;Unaffected mother is ND00614

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND00615 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: ASHKENAZI

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM09794 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

characteristic: tag

text: Intracranial aneurysm - unruptured

text: ND00617 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected nephews are GM08894 and GM08896 and 1 affected niece is GM08895;daughter of GM09752.

text: ASHKENAZI

characteristic: family id

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: GM09795 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND00619 female affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected nephews are GM08894 and GM08896 and 1 affected niece is GM08895;son of GM09793A and GM09794.

text: ASHKENAZI

text: paternal uncle

text: Homo sapiens

text: Caucasian

text: Male

text: GM09796 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected sister of ND00447;unaffected mother is ND00448

characteristic: description

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND00631 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Hemochromatosis

text: 75 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin fibroblast culture;pt expired at age 75 days;similarly affected brother;HLA type: A2;B7/A3;B44;46;XX;Hispanic

text: PORTUGUESE

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Neonatal

text: Hemochromatosis

text: GM09811 female affected Hemochromatosis sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND00638 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Seckel syndrome

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Extreme microcephaly;height and weight below the 5th percentile;limited elbow extension;severe mental retardation;easy bruisability;no secondary sexual development;see GM09703 Lymphoid;46;XX/47;XX;+7/47;XX;+18 (92%/4%/4%);mitotic instability

text: JEWISH

text: proband

text: 47;XX;+7 2 /47;XX;+18 2 /46;XX 46

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Seckel syndrome

characteristic: tag

text: GM09812 female affected Seckel syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND00639 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 74 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;wife;son;daughter;& 2 granddaughters have HHT

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: HHT

text: GM09814 male unaffected Telangiectasia, hereditary hemorrhagic of rendu, osler and weber sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND00640 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected child;see GM09816 Fibroblast

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM09815 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial rupture-status undefined

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Intracranial rupture-status undefined

text: ND00641 male affected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected child;see GM09815 Lymphoid

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM09816 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 35 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND00642 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Chinese;mental retardation;cerebral palsy;mother & a sister have the same balanced translocation;normal father is GM09820 Lymphoid;breakpoint on chromosome 12 could also be 12q21.33

text: CHINESE

characteristic: ethnicity

characteristic: family id

text: proband

text: 46;XX;t(2;12)(2qter>2p25::12q22> 12qter;12pter>12q22::2p25>2pter)mat

characteristic: karyotype

text: Homo sapiens

text: Asian

text: Female

text: Translocated chromosome

text: GM09818 female unaffected Translocated chromosome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 69 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: half-sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND00643 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Spouse and daughter (GM09818) have a balanced t(2;12);daughter has mental retardation and cerebral palsy

characteristic: description

text: CHINESE

text: father

text: Homo sapiens

characteristic: organism

text: Asian

text: Male

text: Apparently healthy non-fetal tissue

text: GM09820 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND00644 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 49 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically not diagnosed as having HTT;suffers one nosebleed per year since childhood & has had mitral valve prolapse;no telangiectasias;mother;sister;& brother have HTT

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: HHT

characteristic: tag

text: GM09822 female unaffected Telangiectasia, hereditary hemorrhagic of rendu, osler and weber sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND00645 female affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Kinase-complex associated protein

text: 34 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;recurrent respiratory infections;pneumonia;blue lips;no nailbed clubbing;gastroesophageal reflux;seizures;syncopal episodes;errors in joint position in both feet;decreased vibratory sense;vomiting following vigorous coughing;postural hypotension;suggestions of poor peripheral circulation;alacrima;no acute corneal problems;optic atrophy;severe myopia;color blindness;stable BUN and creatinine;kyphoscoliosis;affected brothers are GM02341;GM02342;unaffected siblings are GM09827;and GM09828;mother is GM09829;father is GM09830;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;donor subject is also heterozygous for a silent polymorphism in the ASPA gene: 693C>T Tyr231Tyr (Y231Y)

text: ASHKENAZI

characteristic: ethnicity

text: brother

text: ASPA;IKBKAP

characteristic: gene

characteristic: mutation

text: T>C

text: Homo sapiens

text: Caucasian

text: Male

text: Inhibitor of kappa light polypeptide gene enhancer in b cells

text: Neuropathy, hereditary sensory and autonomic type iii

text: Kinase-complex associated protein

text: Aspartoacylase

text: IKBKAP

text: ASPA

text: GM09826 male affected Kinase-complex associated protein sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND00646 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 31 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;3 affected brothers are GM02341;GM02342;and GM09826.

characteristic: description

text: ASHKENAZI

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: GM09827 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND00648 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: ASHKENAZI

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM09828 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND00649 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 61 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;3 affected sons are GM02341;GM02342;and GM09826.

text: ASHKENAZI

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM09829 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 74 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND00650 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: ASHKENAZI

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: GM09830 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: African American

text: Female

text: Intracranial aneurysm - unruptured

text: ND00651 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Telangiectasias on skin & mucous membranes

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: HHT

characteristic: tag

text: GM09832 female affected Telangiectasia, hereditary hemorrhagic of rendu, osler and weber sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND00652 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Basal cell nevus syndrome

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Multiple basal cell nevi on forehead;frontal bossing;broad nasal bridge;thickened legs & ankles;jaw cysts;46;XX;dir ins(5;15)(5pter>5q23.2::15q23> 15q26.1::5q23.2>5qter;15pter>15q23:: 15q26.1>15qter);bal;see GM09834A Fibro

text: IRISH

characteristic: ethnicity

text: proband

text: 46;XX;ins(5;15)(5pter>5q23.2:: 15q23>15q26.1::5q23.2>5qter;15pter> 15q23::15q26.1>15qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome insertion

text: BCNS

text: Basal cell nevus syndrome

text: GM09833 female affected Basal cell nevus syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND00653 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: Basal cell nevus syndrome

text: 48 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple basal cell nevi on forehead;frontal bossing;broad nasal bridge;thickened legs and ankles;jaw cysts;46;XX;dir ins(5;15)(5pter>5q23.2::15q23> 15q26.1::5q23.2>5qter;15pter>15q23:: 15q26.1>15qter);balanced;see GM09833 Lymph

characteristic: description

text: IRISH

text: proband

text: 46;XX;ins(5;15)(5pter>5q23.2:: 15q23>15q26.1::5q23.2>5qter;15pter> 15q23::15q26.1>15qter);46;XX;ins(5;15)(5pter>5q23.2:: 15q23>15q26.1::5q23.2>5qter;15pter> 15q23::15q26.1>15qter) 18 /47;XX;ins(5;15)(5pter>5q23.2:: 15q23>15q26.1::5q23.2>5qter;15pter> 15q23::15q26.1>15qter);+7 2

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Chromosome insertion

text: BCNS

text: Basal cell nevus syndrome

text: GM09834 female affected Basal cell nevus syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND00654 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;4 affected paternal cousins include GM05105;GM05106;and GM09790;son of GM09660.

text: ASHKENAZI

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM09838 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND00655 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daily nosebleeds at age 4-5;spots on fingers;telangiectasias on nose & fingers;2 children are showing signs of HHT;sister and mother are affected

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: HHT

text: GM09849 female affected Telangiectasia, hereditary hemorrhagic of rendu, osler and weber sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND00656 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 30 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daily nosebleeds at age 5-6;spots on fingers;telangiectasias on nose & fingers;some on chest;neck;& shoulders;mother;sister;& nephew have HHT

characteristic: description

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: HHT

text: GM09850 female affected Telangiectasia, hereditary hemorrhagic of rendu, osler and weber sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND00657 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 29 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND00658 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND00665

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND00664 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Familial hypercholesterolemia

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Receptor negative;approximately 10 fold increase in HMG CoA reductase in fibroblasts

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: FHC

text: Familial hypercholesterolemia

text: GM00488 male affected Familial hypercholesterolemia sample


text: Coriell

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00664

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND00665 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Cystinosis, nephropathic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibroblasts show increased intracellular cystine

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Cystinosis, nephropathic

text: CTNS

text: GM00489 male affected Cystinosis, nephropathic sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND00666 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 33 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk

text: niece

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: AD

text: Alzheimer disease

text: GM00490 female unaffected Alzheimer disease sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 78 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND00669;unaffected daughter is ND00670

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND00668 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (forearm);46;XY with 2% of the cells examined showing random chromosome gain

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM00497 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected father is ND00668;unaffected mother is ND00669

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND00670 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Skin biopsy;46;XY;4% of cells show random chromosome loss;culture grows slowly

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM00499 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00672

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

characteristic: tag

text: PD

text: Parkinson disease

text: ND00671 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;46;XY;9qh+;6% of cells show random chromosome loss

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM00500 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: 77 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00671

characteristic: description

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND00672 female unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 5 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Growth and mental retardation

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM00501 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00674

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: PD

text: Parkinson disease

text: ND00673 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: TSD

text: 11 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Jewish;deficient hexosaminidase A;electrophoresis shows absence of A band;donor subject is a compound heterozygote: one allele has a 4-bp insertion at nucleotide 1278 in exon 11 of the HEXA gene 1278insTATC that introduces a premature termination signal in the exon resulting in deficiency of mRNA;the second allele has a G>C splice site mutation in intron 12 (IVS12+1G>C)

text: JEWISH

characteristic: ethnicity

text: HEXA

text: 4-BP INS

text: G>C

text: Homo sapiens

text: Caucasian

text: Male

text: Tay-sachs disease

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM00502 male affected TSD sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 80 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND00674 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: CF

text: 19 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Cell free supernatant produces ciliary dyskinesis factor in rabbit bioassay;metachromasia positive;donor subject is a compound heterozygote: one allele carries a G-to-T substitution at nucleotide 1756 (1756G>T) which converts the gly-542 codon (GGA) to a stop codon (TGA);resulting in a nonsense mutation in exon 11 Gly542TER (G542X) and a second allele carries an A-to-G substitution at nucleotide 1958 (1958A>G) which converts the his-609 codon to an arg;resulting in a missense mutation in exon 13 in the CFTR gene His609Arg (H609R)

characteristic: description

text: CFTR

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM00504 male affected CF sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: PD

text: 84 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND00676

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: PD

text: Parkinson disease

text: ND00675 female affected PD sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Short term lymphocytes show r(13);formerly GM00250;mental and growth retardation;bilateral cleft lip and palate;and other congenital anomalies;no Retinoblastoma;slow growing culture

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Chromosome deletion

text: GM00509 female unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND00675;unaffected spouse is ND00677

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND00676 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 10 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP1PW;Arab;low post UV light induced unscheduled DNA synthesis

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: XPC

text: GM00510 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00676

characteristic: family id

text: son-in-law

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND00677 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Hurler-scheie syndrome

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Alpha-L-Iduronidase;Hurler/ Scheie syndrome

text: Homo sapiens

text: Asiatic Indian

text: Female

text: Hurler-scheie syndrome

characteristic: tag

text: GM00512 female affected Hurler-scheie syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00679

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00678 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Fibrodysplasia ossificans progressiva

text: 16 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Fibrodysplasia ossificans progressiva

text: FOP

text: GM00513 female affected Fibrodysplasia ossificans progressiva sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND00678

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Neurologically normal caucasian control panel

text: ND00679 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tay-sachs disease

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pericardium fibroblast culture;Jewish;deficient hexosaminidase A

characteristic: description

text: JEWISH

characteristic: ethnicity

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Tay-sachs disease

text: TSD

text: GM00514 female affected Tay-sachs disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND00681;unaffected granddaughter is ND00682

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: PD

text: Parkinson disease

text: ND00680 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: TSD

text: 1 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pericardium fibro cult;Jewish;similarly aff sib;def hexosaminidase A activ;electrophoresis shows absence of A band;no detectable alpha chain synthesis;no detectable alpha chain mRNA;donor subject is a compound heterozygote: one allele has a 4-bp insertion in exon 11 of the HEXA gene 4 bp ins that introduces a premature termination signal in exon 11 resulting in deficiency of mRNA and a second allele has a point mutation in exon 11 of the HEXA gene resulting in a substitution of a termination signal for tryptophan at codon 392 Trp392Ter (W392X) .

text: JEWISH

text: proband

text: HEXA

characteristic: gene

characteristic: mutation

text: 4-BP INS

text: Homo sapiens

text: Caucasian

text: Female

text: Tay-sachs disease

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM00515 female affected TSD sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Affected mother is ND00680;unaffected daughter is ND00682

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND00681 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Adenine phosphoribosyltransferase

text: 64 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Enzyme deficient in erythrocytes;normal level in fibroblasts;passage 3 at CCR

characteristic: description

text: Homo sapiens

text: Black

text: Male

text: Aprt 2,8-dihydroxyadenine urolithiasis included

text: Adenine phosphoribosyltransferase

text: GM00517 male affected Adenine phosphoribosyltransferase sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

text: Daughter of ND00681;affected maternal grandmother is ND00680

characteristic: family id

text: granddaughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND00682 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Mucopolysaccharidosis type vi

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01022A Lymph;deficient Arylsulfatase B;short;coarse facies;prominent forehead;corneal opacities;lumbar kyphosis;stiff joints;umbilical hernia;mild hepatosplenomegaly;and dysostosis multiplex

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Mucopolysaccharidosis type vi

characteristic: tag

text: GM00519 female affected Mucopolysaccharidosis type vi sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: PD

text: 78 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND00684

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Late onset parkinsons dna panel: affected individuals

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00683 male affected PD sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 42 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Heterozygote level of Arylsulfatase B;clinically unaffected father of GM00519;00942;and 00943

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type vi

text: GM00520 male unaffected Mucopolysaccharidosis type vi sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND00683

characteristic: description

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND00684 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: G6PD type B;Phosphoglucomutase type 1;XP2NBi;similarly affected sib

text: KIKUYU

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: XPC

text: GM00522 female affected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 81 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND01185

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: PD

text: Parkinson disease

text: ND00686 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 10 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: G6PD type B;Phosphoglucomutase type 1;XP1NBi

text: KIKUYU

text: sister

text: Homo sapiens

text: Black

text: Female

text: XPC

text: GM00523 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00689

characteristic: description

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND00688 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Argininosuccinic aciduria

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Argininosuccinase deficiency;similarly affected brother

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Argininosuccinic aciduria

text: GM00525 male affected Argininosuccinic aciduria sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00688

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND00689 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Died shortly after birth;slow growing culture

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Aneuploid chromosome number - trisomy 13

characteristic: tag

text: Aneuploid chromosome number - trisomy

text: GM00526 male unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected spouse is ND00691.

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND00690 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: TSD

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient hexosaminidase A;normal-sized B-hexosaminidase alpha subunit mRNA;compound heterozygote: 1 allele has a single nucleotide transversion at nucleotide 1260 in exon 11 of the HEXA gene (c.1260G>C) resulting in the substitution of cysteine for tryptophan at codon 420 Trp420Cys (W420C);the other allele has an IVS11+1G>C (c.1330+1G>C)

characteristic: family id

text: proband

text: HEXA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Tay-sachs disease

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM00527 male affected TSD sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Affected spouse is ND00690.

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00691 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 2 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Passage 4 at CCR;clinically affected;GALT gene mutations: Gln188Arg (Q188R) / Gln188Arg (Q188R)

text: GALT

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GALT

text: Galactosemia

text: GM00528 female affected Galactose-1-phosphate uridylyltransferase sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00694

characteristic: description

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: PD

text: Parkinson disease

text: ND00693 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Argininosuccinic aciduria

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Argininosuccinase deficiency

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Argininosuccinic aciduria

text: GM00533 male affected Argininosuccinic aciduria sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00693

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00694 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 27 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;8% of cells show random chromosome loss and 4% show random chromosome aberrations

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM00536 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: PD

text: 82 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected sons are ND00696 and ND00697

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND00695 male affected PD sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Mucopolysaccharidosis type vi

text: 1 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Deficient Arylsulfatase B;normal AlphaL-Iduronidase;similarly affected sib

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Mucopolysaccharidosis type vi

text: GM00538 female affected Mucopolysaccharidosis type vi sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected father is ND00695 and unaffected brother is ND00697

characteristic: family id

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: ND00696 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 63 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal Argininosuccinic acid lyase activity;2 affected sons

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Argininosuccinic aciduria

text: GM00540 male unaffected Argininosuccinic aciduria sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected father is ND00695 and unaffected brother is ND00696

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND00697 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: De Sanctis-Cacchione;XP4LO;2% of normal UV induced unscheduled DNA synthesis;donor subject is homozygous for a 2 bp deletion (468_469delAA) in exon 4 of the XPA gene.

text: XPA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: XPA

text: GM00544 male affected Xeroderma pigmentosum, complementation group a sample


text: Coriell

text: live

text: Generic

text: 76 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Diag is

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND00698 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A3;A11;Bw15;Bw22;46;XY;4% of cells show random chromosome loss and 2% are tetraploid. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (98%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597).

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM00558 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND00700

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

characteristic: tag

text: PD

text: Parkinson disease

text: ND00699 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 25 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;clinically unaffected;positive family history;about 20% of normal sphingomyelinase activity and increased cholesterol biosynthesis in fibroblasts;parent of a child with type A;proband not in Repository;donor subject is heterozygous for a deletion of a single cytosine in exon 2 at codon 330 990delC (which normally encodes a proline residue) resulting in a frameshift leading to the formation of a premature stop (TGA) at codon 382 (1-BP DEL;Pro330FS) of the SMPD1 gene.

text: JEWISH

characteristic: ethnicity

text: 1-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: Niemann-pick disease type a

text: Sphingomyelin phosphodiesterase 1, acid lysosomal

text: GM00559 female unaffected Niemann-pick disease type a sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND00699

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND00700 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 4 cells 46;XX;46 cells 45;X;tissue from left gonad;gonad revealed testicular rather than ovarian tissue;same patient. as GM00563

text: proband

text: 45;X 46 /46;XX 4

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: GM00562 female unaffected Aneuploid chromosome number - non-trisomic sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND00702

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND00701 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 14 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Only XO cells found;tissue from right gonad;gonad revealed testicular rather than ovarian tissue;same patient. as GM00562

text: proband

text: Homo sapiens

text: Black

text: Female

characteristic: tag

text: GM00563 female unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND00701

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00702 female unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Aspartylglucosaminuria

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Finnish;less than 10% of normal Naspartyl-beta-glycosaminidase activity;the donor subject is a compound heterozygote;one allele carries a G-to-A transition (CGG>CAG) at nucleotide 482 of the AGA gene which results in a substitution of glutamine for arginine at codon 161 Arg161Gln (R161Q);the second allele carries a G-to-C transversion (TGC>TCC) at nucleotide 488 of the AGA gene which results in a substitution of serine for cysteine at codon 163 Cys163Ser (C163S) .

text: FINNISH

characteristic: ethnicity

text: AGA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Aspartylglucosaminuria

text: GM00568 female affected Aspartylglucosaminuria sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00703 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Glycogen storage disease iv

text: 2 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient branching enzyme activity and normal debranching enzyme activity in fibroblasts;normal A-glucosidase activity;fibroblasts exhibit elevated glycogen content

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Glycogen storage disease iv

text: GM00572 female affected Glycogen storage disease iv sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 80 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Diag is

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND00704 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Glycogen storage disease iii

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient debrancher enzyme activity

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Glycogen storage disease iii

text: GM00573 female affected Glycogen storage disease iii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND00706

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND00705 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Glycogen storage disease i

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Absent hepatic glucose-6-phosphatase

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Glycogen storage disease i

text: GM00574 male affected Glycogen storage disease i sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 64 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00705

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00706 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 3 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mexican-American;less than 10% of normal phosphorylase b kinase activity;type IX

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM00575 male affected Glycogen storage disease viii (ix included) sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00709

characteristic: description

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Young onset parkinsons dna panel: affected individuals

characteristic: tag

text: PD

text: Parkinson disease

text: ND00708 male affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Glycogen storage disease iii

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Chinese;deficient debrancher enzyme activity

text: CHINESE

text: Homo sapiens

text: Asian

characteristic: race

text: Female

text: Glycogen storage disease iii

text: GM00576 female affected Glycogen storage disease iii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00708

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND00709 female unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Glycogen storage disease v

text: 39 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Absent muscle phosphorylase activity;normal activity in fibroblasts

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Glycogen storage disease v

text: GM00577 male affected Glycogen storage disease v sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND00714

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND00713 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Glycogen storage disease iii

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Latin-American;deficient debrancher enzyme activity

text: LATIN AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease iii

text: GM00578 male affected Glycogen storage disease iii sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00713

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND00714 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Pyruvate decarboxylase deficiency

text: 7 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hyperlacticacidemia

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Pyruvate decarboxylase deficiency

text: GM00583 female affected Pyruvate decarboxylase deficiency sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: PD

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected son is ND00716

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND00715 female affected PD sample


text: Coriell

text: live

text: Generic

text: Homocystinuria

text: 39 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Deficient cystathionine synthetase activity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Homocystinuria

text: GM00584 male affected Homocystinuria sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected son of ND00715

characteristic: description

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND00716 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 65 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected father of GM00584

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Homocystinuria

text: GM00585 male unaffected Homocystinuria sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinsonism

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter is ND00719

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: OTHER

text: Parkinsonism

text: ND00718 female affected Parkinsonism sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal with emotional and mental disturbance

text: 46;XY;t(5;14)(5qter>5p14::14q21>14qter;14pter>14q21::5p14>5pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM00589 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND00718

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND00719 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Mucopolysaccharidosis type iva

text: 7 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Less than 1% of normal N-acetylgalactosamine 6-sulfate sulfatase;normal B-galactosidase and B-glucuronidase activity

text: MEXICAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Mucopolysaccharidosis type iva

text: GM00593 female affected Mucopolysaccharidosis type iva sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 62 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND00722

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND00720 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Homocystinuria

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Homocystinuria

characteristic: tag

text: GM00594 male affected Homocystinuria sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Diag is

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND00721 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 7 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Cobalamin A mutant;B12 responsive

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM00595 male affected Methylmalonicaciduria, vitamin b12-responsive due to defect in synthesis of adenosylcobalamin--cbl a sample


text: Coriell

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected father is ND00720

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND00722 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of GM00595

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM00596 female unaffected Methylmalonicaciduria, vitamin b12-responsive due to defect in synthesis of adenosylcobalamin--cbl a sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00724

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00723 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM00599 female affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND00723;affected sister is ND00726;unaffected daughter ND00725

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND00724 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;proband not in Repository

text: Homo sapiens

text: Caucasian

text: Male

text: GM00600 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND00724

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND00725 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 10 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;46;XY;22% of cells show random chromosome loss

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: GM00601 male affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Affected sister of ND00724

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND00726 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Proband not in Repository;clinically unaffected;46;XY;20% of cells show random chromosome loss/gain

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM00602 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Dementia with lewy bodies

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughters are ND00730 and ND00731

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Dementia with lewy bodies

text: ND00729 female affected Dementia with lewy bodies sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Proband not in Repository;clinically unaffected;46;XX;26% of cells show random chromosome loss

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM00603 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected mother is ND00729 and unaffected sister is ND00731

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND00730 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Allergic asthmatic

text: 10 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Allergic asthmatic

text: GM00604 male affected Allergic asthmatic sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected mother is ND00729 and unaffected sister is ND00730

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND00731 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;19p+;secretes IgM (Kappa)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM00607 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND00733

characteristic: description

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

characteristic: tag

text: PD

text: Parkinson disease

text: ND00732 male affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Cystic fibrosis

text: 21 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Metachromasia positive

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: CF

text: Cystic fibrosis

text: GM00608 male affected Cystic fibrosis sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected daughter of ND00732

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: ND00733 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Diabetes mellitus

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: On Insulin;clinically affected

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM00609 female affected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND00741

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND00742 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 11 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal

text: 46;XX;t(6;18)(6pter>6q21::18p11>18pter;18qter>18p11::6q21>6qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM00610 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 55 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND00745

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND00744 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 2 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Less than 2% of normal BCKAD activity;absence of cross-reactive material for BCKAD complex subunit E2;positive for E1A;E1B;and E3;donor subject is a compound heterozygote: one allele has a G>T transversion in exon 6 of the DBT (E2) gene producing a premature stop codon at glu-163 Glu163Ter (E163X) and the second allele has a 2 bp (AT) deletion in exon 2;causing a frameshift downstream of residue (-26) in the mitochondrial targeting presequence

text: DBT

characteristic: gene

text: AT

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: DBT

text: Maple syrup urine disease (msud) type ii

text: GM00612 female affected Dihydrolipoamide branched-chain transacylase sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND00744

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND00745 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal mucopolysaccharide accumulation;positive family history for MPS II;clinically unaffected mother of GM00614

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Mucopolysaccharidosis type ii

characteristic: tag

text: GM00613 female unaffected Mucopolysaccharidosis type ii sample

characteristic: title