text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Glycogen storage disease i

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mexican/American;no detectable glucose6-phosphatase activity in liver biopsy;at age 7 the disease is managed with diet & cornstarch supplementation;poor growth;history of hypoglycemic seizures;on phenobarbital

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease i

characteristic: tag

text: GM09036 female affected Glycogen storage disease i sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

tag: attribute

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Parkinson disease

text: ND15735 female affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hyperammonemia;mental retardation;high urinary orotic acid;high serum glutamine & alanine;undetectable citrulline;coma;fam hist of X-linked inheritance of protein intolerance;OTC cDNA probe shows altered TaqI restriction site

characteristic: description

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: OTC

text: GM09039 male affected Ornithine transcarbamylase deficiency, hyperammonemia due to sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND15736 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Carrier of OTC deficiency;deceased son had absent OTC activity in post-mortem liver specimen;lifelong history of protein intolerance;OTC cDNA probe shows altered TaqI restriction site;proband not in Repository

text: Homo sapiens

text: Caucasian

text: Female

text: OTC

text: GM09040 female unaffected Ornithine transcarbamylase deficiency, hyperammonemia due to sample


text: Coriell

text: live

text: Generic

text: 73 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND15737 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;2 affected children

text: ACADIAN

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Usher syndrome type iia

text: GM09047 female unaffected Usher syndrome type iia sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND15738 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected grandchildren

characteristic: description

text: ACADIAN

characteristic: ethnicity

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type iia

text: GM09048 female unaffected Usher syndrome type iia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND15739 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: 12 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;two affected siblings

text: ACADIAN

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type iia

text: GM09049 female unaffected Usher syndrome type iia sample


text: Coriell

text: live

text: Generic

text: 75 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND15740 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;two affected children

text: ACADIAN

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Usher syndrome type iia

text: GM09050 male unaffected Usher syndrome type iia sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Female

text: ND15741 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;2 affected grandchildren;clinically unaffected

characteristic: description

text: ACADIAN

characteristic: ethnicity

text: paternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type iia

text: GM09051 male unaffected Usher syndrome type iia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND15742 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Usher syndrome type iia

text: 14 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically affected;a sib is also affected;46;XX;daughter of GM09050B & 09047A

text: ACADIAN

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type iia

text: GM09052 female affected Usher syndrome type iia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND15746 female unaffected Population/convenience control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Usher syndrome type iia

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically affected

text: ACADIAN

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Usher syndrome type iia

text: GM09053 male affected Usher syndrome type iia sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: More than one race

text: Female

text: Intracranial aneurysm - unruptured

text: ND15760 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: ACADIAN

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Usher syndrome type iia

text: GM09054 female unaffected Usher syndrome type iia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 74 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND15770 male affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;2 affected sibs;clinically unaffected;son of GM09050B and 09047A

text: ACADIAN

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Usher syndrome type iia

text: GM09055 male unaffected Usher syndrome type iia sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND15771 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;1 affected sib;clinically unaffected;sister of GM09063;daughter of GM09058 & 09057A

text: ACADIAN

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ia

text: GM09056 female unaffected Usher syndrome type ia sample


text: Coriell

text: live

text: Generic

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Dutch;French

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND15772 female unaffected Control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Acadian;1 affected child;clinically unaffected;son of GM09061

characteristic: description

text: ACADIAN

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

text: GM09057 male unaffected Usher syndrome type ia sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND15780 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;1 affected child;clinically unaffected;daughter of GM09062A & 09059

text: ACADIAN

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Usher syndrome type ia

text: GM09058 female unaffected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND15797 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;1 affected grandchild;clinically unaffected

text: ACADIAN

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ia

text: GM09059 female unaffected Usher syndrome type ia sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 62 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND15799 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 14 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;1 affected sib;clinically unaffected;daughter of GM09057A & 09058

text: ACADIAN

characteristic: ethnicity

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ia

text: GM09060 female unaffected Usher syndrome type ia sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 44 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND15812 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: ACADIAN

characteristic: family id

text: paternal grandmother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Usher syndrome type ia

text: GM09061 female unaffected Usher syndrome type ia sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ndpt097 mnd custom plate

text: Amyotrophic lateral sclerosis 1

text: ND15814 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 67 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: ACADIAN

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Usher syndrome type ia

text: GM09062 male unaffected Usher syndrome type ia sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Progressive supranuclear palsy

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

characteristic: tag

text: ND15818 male affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

text: Usher syndrome type ia

text: 13 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Acadian;consang parents;46;XX;younger sis is hearing impaired but vision tests have not yet been done;speech awareness at 95dB for rt ear & 100dB for left;funduscopic ex showed abnor optic discs;atten vessels;& bone spicula pigm chgs

characteristic: description

text: ACADIAN

characteristic: ethnicity

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ia

text: GM09063 female affected Usher syndrome type ia sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND15819 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 73 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;3 affected grandchildren;clinically unaffected

text: ACADIAN

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Usher syndrome type ic

text: GM09065 male unaffected Usher syndrome type ic sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 80 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: GERMAN

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND15831 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: description

text: ACADIAN

characteristic: ethnicity

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Usher syndrome type ic

text: GM09066 female unaffected Usher syndrome type ic sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND15832 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Usher syndrome type ic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;2 aff sibs;parents are 3rd cous;ERG & funduscopic exam show visual field defects & a retinal abnormality;speech awareness threshold is 110dB bilat;unintelligible speech;excel manual commun skills;dau of GM09069A & 09073

text: ACADIAN

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Usher syndrome type ic

text: GM09067 female affected Usher syndrome type ic sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Dementia with lewy bodies

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: swedish

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Dementia with lewy bodies

text: ND15833 male affected Dementia with lewy bodies sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 72 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: ACADIAN

text: paternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ic

text: GM09068 male unaffected Usher syndrome type ic sample


text: Coriell

text: live

text: Generic

text: 79 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: swedish

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND15834 female unaffected Control sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;3 affected children;son of GM09068B

characteristic: description

text: ACADIAN

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Usher syndrome type ic

text: GM09069 male unaffected Usher syndrome type ic sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND15835 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Acadian;2 affected sibs;parents are 3rd cousins;visual field defect and retinal abnormalities;profound bilateral sensorineural hearing loss;absent contralateral stapedial reflex thresholds bilaterally;speech awareness threshold 100 dB for rightt ear and 110 db+ for left ear;unintelligible speech;excellent manual communication skills;son of GM09069A and 09073;donor subject is homozygous for a G>A transition at nucleotide 216 in exon 3 of the USH1C gene 216G>A resulting in a splice-site mutation that causes a 35 bp frame-shift deletion (new splice site is created that eliminates the use of the normal splice site resulting in loss of normal mRNA)

text: ACADIAN

text: brother

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ush1c gene

text: Usher syndrome type ic

text: GM09070 male affected USH1C sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 66 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND15836 male unaffected Control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;Acadian;twin of GM09072;3 affected sibs;daughter of GM09069A and 09073;donor subject does not carry a USH1C gene mutation

characteristic: description

text: ACADIAN

characteristic: ethnicity

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ic

text: GM09071 female unaffected Usher syndrome type ic sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Progressive supranuclear palsy

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Progressive supranuclear palsy

characteristic: tag

text: ND15842 male affected Progressive supranuclear palsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;Acadian;twin of GM09071;3 affected sibs;son of GM09069A and 09073;donor subject is heterozygous for a G>A transition at nucleotide 216 in exon 3 of the USH1C gene 216G>A resulting in a splice-site mutation that causes a 35 bp frame-shift deletion (new splice site is created that eliminates the use of the normal splice site resulting in loss of normal mRNA)

text: ACADIAN

text: brother

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ush1c gene

text: Usher syndrome type ic

text: GM09072 male unaffected USH1C sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 67 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND15843 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Acadian;clinically unaffected;3 affected children;daughter of GM09065 and 09066

characteristic: description

text: ACADIAN

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ic

text: GM09073 female unaffected Usher syndrome type ic sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND15854 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Usher syndrome type ic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;2 aff sibs;parents are 3rd cousins;46;XX;funduscopic ex showed bony spicule deposits in midperipheral and vascular attenuation bilaterally;ERG records were extinguished for scotopic stimuli and min for photopic;bilateral sensorineural hearing loss

text: ACADIAN

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Usher syndrome type ic

text: GM09074 female affected Usher syndrome type ic sample


text: Coriell

text: live

text: Generic

text: 87 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND15865 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Acadian;deaf but does not have Ushers syndrome;spouse of GM09074

characteristic: description

text: ACADIAN

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ic

text: GM09075 male unaffected Usher syndrome type ic sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND15868 male 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 model

characteristic: NCBI submission package

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;mother is affected;father is deaf but does not have Ushers syndrome;son of GM09074 & 09075B

text: ACADIAN

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: Usher syndrome type ic

text: GM09076 male unaffected Usher syndrome type ic sample


text: Coriell

text: live

text: Generic

text: 62 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: English;Scottish

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND15874 female unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: ACADIAN

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Usher syndrome type ic

text: GM09077 male unaffected Usher syndrome type ic sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND15885 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;2 affected children;son of GM09086

characteristic: description

text: ACADIAN

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

text: GM09078 male unaffected Usher syndrome type ia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND15892 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;2 affected children;daughter of GM09084C and 09081B

text: ACADIAN

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Usher syndrome type ia

characteristic: tag

text: GM09079 female unaffected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: identical twin sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND15893 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Acadian;clinically unaffected;2 affected sibs;son of GM09078A and 09079

text: ACADIAN

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Usher syndrome type ia

text: GM09080 male unaffected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: english

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND15902 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;2 affected grandchildren;clinically unaffected

characteristic: description

text: ACADIAN

characteristic: family id

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ia

text: GM09081 female unaffected Usher syndrome type ia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 54 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: french;english

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND15903 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;2 affected nephews;son of GM09084C & 09081B

text: ACADIAN

text: maternal uncle

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Usher syndrome type ia

characteristic: tag

text: GM09082 male unaffected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND15909 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Usher syndrome type ia

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;ocular health is within normal limits & peripheral fields are intact with RP scotoma;speech awareness threshold is 100dB in both ears;communicates by sign language & fingerspeling;son of GM09078A & 09079

text: ACADIAN

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Usher syndrome type ia

text: GM09083 male affected Usher syndrome type ia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND15918 female affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 71 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: ACADIAN

characteristic: ethnicity

characteristic: family id

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

text: GM09084 male unaffected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 70 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND15919 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: ACADIAN

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Usher syndrome type ia

characteristic: tag

text: GM09085 male unaffected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Ash Jewish

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND15932 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: ACADIAN

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Usher syndrome type ia

text: GM09086 female unaffected Usher syndrome type ia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND15952 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;2 affected sibs;son of GM09078A and 09079

characteristic: description

text: ACADIAN

characteristic: ethnicity

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

text: GM09087 male unaffected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 37 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND15953 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;spouse of GM09090

text: ACADIAN

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Usher syndrome type ia

characteristic: tag

text: GM09089 female unaffected Usher syndrome type ia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: niece

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND15954 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Usher syndrome type ia

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;1 affected sib;46;XY;speech awareness threshold was 110 dB in both ears;above average receptive language skills;unintelligible speech;spouse of GM09089;son of GM09078A and 09079

text: ACADIAN

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Usher syndrome type ia

text: GM09090 male affected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister-in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND15955 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 37 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected

characteristic: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Polycystic kidneys

text: GM09091 female unaffected Polycystic kidneys sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 64 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ash jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND15959 male affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 5% of normal long-chain Acyl CoA dehydrogenase activity in fibroblasts;presented at 9 months with hypoglycemia;elevated plasma fatty acids;moderate ketosis;carnitine deficiency in plasma;liver and muscle;similarly affected sib

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: GM09093 female affected ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND15998 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 73 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;husband & 3 children are affected

text: ITALIAN

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Multiple endocrine neoplasia type ii

text: GM09099 female unaffected Multiple endocrine neoplasia type ii sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND16004 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Multiple endocrine neoplasia type ii

text: 33 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: C-cell hyperplasia of the thyroid;father & 2 sibs have documented MEN-2

characteristic: description

text: ITALIAN

characteristic: ethnicity

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Multiple endocrine neoplasia type ii

text: GM09100 female affected Multiple endocrine neoplasia type ii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND16015 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 8 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;de novo deletion;peripheral blood haptoglobin concentration is consistent with gene dosage

text: 46;XX;del(16)(pter->q22::q23->qter).arr 16q22.1q23.1(67613818-74617204)x1;46;XX;del(16)(pter>q22.1::q23.1>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Chromosome deletion

characteristic: tag

text: Copy number variation (cnv) refernece panel 02

text: GM09101 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND16016 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: Gyrate atrophy of choroid and retina

text: 43 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pyridoxine non-responsive;approx 1% of control fibroblast ornithine aminotransferase activ;not of Finnish extraction;negative family hist;constricted visual fields;abnormal electroretinography & electro-oculography;moderate myopia

text: Homo sapiens

text: Caucasian

text: Male

text: Gyrate atrophy of choroid and retina

text: GACR

text: GM09110 male affected Gyrate atrophy of choroid and retina sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND16017 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Gyrate atrophy of choroid and retina

text: 60 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Pyridoxine non-responsive;approximately 3% of control fibroblast ornithine aminotransferase activity;not of Finnish extraction;corneal leukoma;glaucoma

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Gyrate atrophy of choroid and retina

text: GACR

text: GM09112 female affected Gyrate atrophy of choroid and retina sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND16024 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Gyrate atrophy of choroid and retina

text: 90 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pyridoxine responsive;approximately 19% of control fibroblast ornithine aminotransferase activity;not of Finnish extraction;negative family history;mild clinical disease

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Gyrate atrophy of choroid and retina

characteristic: tag

text: GACR

text: GM09113 female affected Gyrate atrophy of choroid and retina sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND16025 female unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Gyrate atrophy of choroid and retina

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pyridoxine non-responsive;approximately 5% of control fibroblast ornithine aminotransferase activity;elevated plasma ornithine;characteristic retinal pigment epithelium findings;myopia;abnormal ERG;similarly affected sister

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Gyrate atrophy of choroid and retina

text: GACR

text: GM09115 female affected Gyrate atrophy of choroid and retina sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 82 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND16045 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Gyrate atrophy of choroid and retina

text: 13 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Pyridoxine non-responsive;approximately 4% of control fibroblast ornithine aminotransferase activity;elevated plasma ornithine;poor night vision since before age 5 and poor peripheral vision since age 11;abnormal ERG

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Gyrate atrophy of choroid and retina

text: GACR

text: GM09116 female affected Gyrate atrophy of choroid and retina sample


text: Coriell

text: live

text: Generic

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND16050 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: Gyrate atrophy of choroid and retina

text: 45 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pyridoxine responsive;approx 8% of control fibroblast ornithine aminotransferase act;not of Finnish extraction;neg family hist;constricted visual fields;abnormal electroretinography & electrooculography;mild myopia

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Gyrate atrophy of choroid and retina

text: GACR

text: GM09117 female affected Gyrate atrophy of choroid and retina sample


text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND16051 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

characteristic: NCBI submission package

text: Gyrate atrophy of choroid and retina

text: 37 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pyridoxine responsive;approximately 6% of control fibroblast ornithine aminotransferase activity;not of Finnish extraction;marked myopia;abnormal electroretinography & electro-oculography;similarly affected sister

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Gyrate atrophy of choroid and retina

text: GACR

text: GM09118 female affected Gyrate atrophy of choroid and retina sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Female

characteristic: sex

text: Parkinson disease

text: ND16052 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 3 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Congen heart disease;arthrogryposis;maximal at knees & elbows;hypoplastic left kidney & left uterine horn;discoid;retroperitoneal spleen;microcephaly;hypotonia;abnor;flat face;prom occiput;sml mouth;wide-spaced nipples

text: 46;XX;der(9)(16qter->16q23::9p22->9qter)pat.arr 4q31.22(145061541-145163047)x1;9p24.3p22.3(36586-15507870)x1;16q23.2q24.3(79632237-88815024)x3;46;XX;der(9)(9qter>9p22::16q23.1>16qter)pat

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

text: GM09132 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 64 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND16053 female affected Progressive supranuclear palsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Chromosome deletion

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Obese;mental retardation;hypogonadism;small hands and feet;hypotonia;46;XX;del(15)(pter>q11.2::q13>qter)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Chromosome deletion

text: PWS

text: Prader-willi syndrome

text: GM09133 female affected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

characteristic: tag

text: ND16054 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Fmr1 gene

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;son of GM06863;46;fra(X)(q27);Y in PBL;hyperactive;developmental delay;seizures;and esotropia;full expansion by Southern analysis

characteristic: description

characteristic: family id

text: maternal cousin

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM09145 male affected Fmr1 gene sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND16066 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 2 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;daughter of GM06863B;1 affected brother;46;XX in PBL;normal female by Southern analysis

text: maternal cousin

text: Homo sapiens

text: Black

text: Female

text: Fragile x mental retardation syndrome

text: GM09146 female unaffected Fragile x mental retardation syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 81 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Welch;German

characteristic: ethnicity

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: ND16074 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Hemoglobin--beta locus

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Italian;B-thalassemia;homozygous for codon 39 C-T mutation

characteristic: description

text: ITALIAN

text: Homo sapiens

text: Caucasian

text: Female

text: Hemoglobin--beta locus

text: HBB

text: GM09153 female affected Hemoglobin--beta locus sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: English;German

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND16088 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Neuroaxonal dystrophy

text: 10 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hispanic;lung fibro cult;pass 2 at CCR;men retard;cerebral palsy;spastic quadriplegia since age 1.5 following a febrile episode;brother has progressive motor def;brain showed diffuse swelling & softening & abnormal basal ganglia

text: HISPANIC

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Infantile

text: Neuroaxonal dystrophy

text: GM09154 female affected Neuroaxonal dystrophy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND16097 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Chromosome deletion

text: 4 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Hypotonia;feeding difficulties;postmaturity;small hands and feet;failure to thrive;normal CT scan;normal EEG;46;XX;del(15)(pter>q11.2::q13>qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Chromosome deletion

text: PWS

text: Prader-willi syndrome

text: GM09189 female affected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND16102 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son with unbalanced translocation is GM08755 Fibroblast

characteristic: description

text: mother

text: 46;XX;t(4;8)(4pter>4q34::8q22.1> 8qter;8pter>8q22.1::4q34>4qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM09192 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND16103 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Menkes syndrome

text: 4 MO

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Characteristic hair & neurologic findings;low serum copper & ceruloplasma;developmental delay;seizures;negative family history;see GM09230 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Menkes syndrome

text: GM09194 male affected Menkes syndrome sample


text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND16104 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: One affected son;see GM09231 Fibroblast

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Menkes syndrome

text: GM09195 female unaffected Menkes syndrome sample


text: Coriell

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: ND16105 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: One affected son;see GM09232 Fibroblast

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Menkes syndrome

text: GM09196 male unaffected Menkes syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND16106 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Huntington disease

text: 6 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Juvenile onset

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM09197 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinsonism, other

text: 75 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: Parkinsonism, other

text: ND16107 female affected Parkinsonism, other sample


text: Coriell

text: live

text: Generic

text: 13 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At age 1 showed severe growth & mental retardation;multiple anomalies;heterozygous BA phenotype at ACP-1 locus;see GM01138 Fibroblast

text: proband

text: 46;XY;del(2)(pter->p25.1::p23->qter).arr 2p25.1p23.3(10260988-27005382)x1;4q31.22(145061542-145162384)x1;46;XY;del(2)(pter>p25.1::p23.3>qter);46;XY;del(2)(pter>p25.1::p23.3>qter).ish del(2)(D2S447+)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Copy number variation (cnv) reference panel

text: Chromosome deletion

text: GM09216 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND16108 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Crigler-najjar syndrome

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: First cousin of GM09218;persistent unconjugated hyperbilirubinemia;no evidence of neurologic or cognitive impairment;parents are third cousins;the donor subject is homozygous for a C-to-T transition (TCC>TTC) in exon 4 of the UGT1A1 gene which results in a substitution of phenylalanine for serine at codon 376 SER376PHE (S376F) .

text: ENGLISH

characteristic: ethnicity

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Crigler-najjar syndrome

text: Udp-glycosyltransferase 1 family, polypeptide a1

text: GM09217 female affected Crigler-najjar syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 76 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND16110 male affected Progressive supranuclear palsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Crigler-najjar syndrome

text: 4 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: First cousin of GM09217;persistent unconjugated hyperbilirubinemia;no evidence of neurologica or cognitive impairment;consanguineous parents;the donor subject is homozygous for a C-to-T transition (TCC>TTC) in exon 4 of the UGT1A1 gene which results in a substitution of phenylalanine for serine at codon 376 SER376PHE (S376F) .

characteristic: description

text: ENGLISH

characteristic: family id

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Crigler-najjar syndrome

text: GM09218 male affected Crigler-najjar syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND16112 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pre- & post-natal growth deficiency;natal teeth;microcephaly;mild hemiatrophy;pectus excavatum;glandular hypospadias;& clinodactyly;multiple hyperpigmented macules;severe hypothyroidism;low IQ;unstable;46% r(12) at P10

text: 46;XY;r(12)(::p13.3->q24.33::) 18 /46;XY;inv(12)(pter->p11.2::q24.33->p11.2::q24.33->qter) 13 /45;X 9 /45;XY;-12 2 /46;XY 8;46;XY;r(12)(::p13.3>q24.33::)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Ring chromosome

characteristic: tag

text: GM09229 male unaffected Ring chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 79 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Dutch

characteristic: ethnicity

text: first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND16183 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Menkes syndrome

text: 7 MO

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Characteristic hair & neurologic findings;low serum copper & ceruloplasma;developmental delay;seizures;negative family history;see GM09194 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Menkes syndrome

text: GM09230 male affected Menkes syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND16187 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 33 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: One affected son;see GM09195 Lymphoid

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Menkes syndrome

text: GM09231 female unaffected Menkes syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: ND16188 male unaffected Control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: One affected son;see GM09196 Lymphoid

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Menkes syndrome

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM09232 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Ischemic stroke

text: 58 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Ischemic stroke

text: Ndpt114 - ischemic stroke, caucasian panel

text: ND16189 female affected Ischemic stroke sample


text: Coriell

text: live

text: Generic

text: 4 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;46;XY;negative for fra(X) in PBL;1 affected brother;son of GM09238;normal male by Southern analysis

text: maternal cousin

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Fragile x mental retardation syndrome

text: GM09236 male unaffected Fragile x mental retardation syndrome sample


text: Coriell

text: live

text: Generic

text: Parkinsonism, other

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: Parkinsonism, other

text: ND16211 male affected Parkinsonism, other sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Fmr1 gene

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Low-normal IQ;hyperactive;short attention span;46;fra(X)(q27);Y in PBL;son of GM09238;CGG repeats in the FMR1 gene range from 931-940 (normal size range is 5-45 repeats);full mutation (fully methylated) characteristic of Fragile X syndrome.

text: maternal cousin

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM09237 male affected Fmr1 gene sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND16212 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 36 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal IQ;1 affected son;3 affected nephews;mother of GM09236A & GM09237;46;XX in PBL;carrier female by Southern analysis

characteristic: description

text: maternal aunt

text: Homo sapiens

text: Black

text: Female

text: Fragile x mental retardation syndrome

characteristic: tag

text: GM09238 female unaffected Fragile x mental retardation syndrome sample


text: Coriell

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: German

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND16214 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Hydroxymethylbilane synthase

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Nausea;vomiting;and abdominal pain during crises (approx 8 per year);neuropathy and muscle weakness;porphobilinogen deaminase RBC activity is within the normal range;high urinary levels of delta-aminolevulinic acid and porphobilinogen;donor subject is heterozygous for a G>A transition in intron 1 of the HMBS gene (IVS1+1G>A)

text: HMBS

characteristic: gene

characteristic: mutation

text: G-A

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Hydroxymethylbilane synthase

text: HMBS

text: Porphyria, acute intermittent

text: GM09239 female affected Hydroxymethylbilane synthase sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: Irish;English

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND16215 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 60 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mother of GM09254B;spouse of GM09247B;1 affected child not in Repository;46;XX

characteristic: description

text: SWISS/GERMAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM09246 female unaffected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Irish;German;Scotish;Swiss;Welsch

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND16216 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 64 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Spouse of GM09246B;father of GM09254B;1 affected child not in Repository;46;XY

text: SWISS/GERMAN

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: GM09247 male unaffected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: German;French;Scotish;Irish

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND16217 female unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;3 affected sibs;46;XX;15p+

text: SWISS/GERMAN

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM09252 female unaffected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: 73 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: ND16218 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected sib;son of GM09246B & GM09247B

characteristic: description

text: SWISS/GERMAN

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM09254 male unaffected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND16261 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 55 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal ophthalmologic exam;1 affected daughter

text: ENGLISH/GERMAN

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: VHL

text: Von hippel-lindau syndrome

text: GM09255 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: French Canadian

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND16265 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 54 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal ophthalmologic exam;1 affected daughter;family history of cancer;several seizure episodes

text: ENGLISH/GERMAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: VHL

text: Von hippel-lindau syndrome

text: GM09256 female unaffected Von hippel-lindau syndrome sample


text: Coriell

text: live

text: Generic

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: French;Irish;Canadian

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND16266 female unaffected Control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Von hippel-lindau syndrome

text: 21 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Bilateral retinal angiomas at age 19;neurologic evaluation;CT scan;and IVP were normal;class II pap smear;46;XX;fra(22)(q13) in peripheral blood lymphocytes;46;XX in fibroblast culture

text: ENGLISH/GERMAN

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: VHL

text: Von hippel-lindau syndrome

text: GM09257 female affected Von hippel-lindau syndrome sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

characteristic: tag

text: ND16268 male affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Angioedema;about 40 attacks per year;urticaria on a few occasions during childhood;long-standing ragweed hay fever and asthma;proband and a sister have approximately 20% of normal carboxypeptidase N activity in serum;donor subject is a compound heterozygote: one allele has a frameshift mutation due to a single G insertion at nucleotide 385 (codon R58) in exon 1 of the CPN1 gene which predicted an abnormal and prematurely truncated protein of 164 amino acids 385fsInsG and the second allele has a G>A transition at nucleotide 746 in exon 3 (746G>A) that results in a missense gly178-to-asp substitution Gly178Asp (G178D)

characteristic: description

characteristic: gene

text: 1-BP INS

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Carboxypeptidase n

text: Polypeptide 1, 50-kd

text: Carboxypeptidase n deficiency

text: GM09276 male affected CPN1 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: Parkinson disease

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND16272 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glycogen storage disease ii

text: 10 MO

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Puerto Rican;hypotonia;delayed motor milestones;head lag;approximately 7-10% of control acid alpha-glucosidase activity

text: PUERTO RICAN

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Glycogen storage disease ii

text: GM09282 female affected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

characteristic: tag

text: Parkinson disease

text: ND16274 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Puerto Rican;clinically unaffected;1 affected daughter

characteristic: description

text: PUERTO RICAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease ii

text: GM09283 female unaffected Glycogen storage disease ii sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND16275 male unaffected Control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: PUERTO RICAN

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Glycogen storage disease ii

text: GM09284 male unaffected Glycogen storage disease ii sample


text: Coriell

text: live

text: Generic

text: 73 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ash Jewish

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND16276 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 19 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Minor congenital anomalies;absence of isthmus of the thyroid;free-floating cecum;appendix;& ascending colon;flexion contracture;left index finger;focal adrenal cytomegaly;shortened tail of pancreas;accessory lobe of liver

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM09285 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Ash Jewish

characteristic: ethnicity

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND16280 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 19 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;protuberant nose and mouth;low set ears;immature placenta with a bivascular umbilical cord

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Male

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 9

text: GM09286 male unaffected Aneuploid chromosome number - trisomy sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND16321 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 19 FW

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Umbilical cord biopsy;protuberant nose & mouth;low set ears;immature placenta with a bivascular umbilical cord

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 9

text: GM09287 male unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive supranuclear palsy

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: SPANISH;GERMAN;FRENCH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Progressive supranuclear palsy

text: ND16326 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibroblast culture established from a spontaneously aborted fetus

text: 46;XX;t(1;6)(1pter>1q43::6q23>6qter;6pter>6q23::1q43>1qter)mat;46;XX;t(1;6)(1pter>1q43::6q23>6qter;6pter>6q23::1q43>1qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM09290 female unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND16327 female unaffected Population/convenience control sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 1 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Rhizomelic form with limb shortening;stippled epiphyses;congenital cataracts;mental retardation;fibroblasts show a deficiency of peroxisomal plasmalogen synthesis;see GM09399 Fibro

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM09291 male affected Rhizomelic chondrodysplasia punctata type 1 sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 4 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Male

characteristic: sex

text: Epilepsy

text: ND16332 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;see GM09400A Fibroblast

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM09292 female unaffected Rhizomelic chondrodysplasia punctata type 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Belgian;English

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND16339 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;see GM09401 Fibroblast

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM09293 male unaffected Rhizomelic chondrodysplasia punctata type 1 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: German;English

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND16341 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 21 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected siblings are GM09295 and GM09299;daughter of GM09300 and GM09301.

characteristic: description

text: ASHKENAZI

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM09294 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Norwegian

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND16344 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: HEXA

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;severe postural hypotension;episodic hypertension;muscular fasciculations of shoulders and arms occured when erect for 10 minutes;bilateral tarsorraphies since age 5;dense corneal opacity on left;continual overflow tears in right eye;mild scoliosis;azotemia;BUN is 32 and creatinine is 1.6 (rising);persistent proteinuria;mild anemia;no vomiting problems;possible vagal irritation;nocturia;no acute respiratory problems;affected sister is GM09299;unaffected sister is GM09294;mother is GM09300;father is GM09301;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 an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 Asn370Ser (N370S) codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG;donor subject is also homozygous for a benign C>T mutation at nucleotide 739 in exon 7 of the HEXA gene (739C>T) resulting in the substitution of tryptophan for arginine at codon 247 Arg247Trp (R247W)

text: ASHKENAZI

text: proband

text: GBA;HEXA;IKBKAP

characteristic: gene

characteristic: mutation

text: T>C

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

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

text: Hexosaminidase a

text: Neuropathy, hereditary sensory and autonomic type iii

text: GBA

text: HEXA

text: Kinase-complex associated protein

text: Glucosidase acid beta

text: IKBKAP

text: GM09295 male affected HEXA sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: Dutch;English;German

characteristic: ethnicity

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND16345 female unaffected Control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 21 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;alacrima;no corneal problems;color blindness;strabismus;mild left exotropia;no depth perception;recurrent Staphylococcal pneumonias;cyanotic nailbeds;chronic interstitial fibrosis noted on chext x-ray;kyphoscoliosis;epidural hematoma with surgical removal and subsequent seizure disorder;vomiting crises during premenstrual week but vomiting resolved with initiation of Ovral 21;postural hypotension;recurrent otitis media during infancy;absent right corneal reflex;almost no appreciation of sharp on face;vibration sense slighlty decreased in all extremities;complete absence of pain sensation in right leg;azotemia;evidence of progressive renal insufficiency;only one of four odors identified;affected brother is GM09297;unaffected siblings are GM09298;GM09302;mother is GM09764;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

text: proband

text: IKBKAP

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

text: Kinase-complex associated protein

text: IKBKAP

text: GM09296 female affected Neuropathy, hereditary sensory and autonomic type iii sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 73 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND16357 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample