text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Cutis laxa

text: 45 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Passage 4 at CCR;clinically affected

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Cutis laxa

text: GM00480 female affected Cutis laxa sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 39 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND00607 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Familial hypercholesterolemia

text: 37 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Elevated plasma cholesterol;mother of GM00488C

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: FHC

text: Familial hypercholesterolemia

text: GM00483 female affected Familial hypercholesterolemia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND00608 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Familial hypercholesterolemia

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Receptor negative;see GM01459B Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: FHC

text: Familial hypercholesterolemia

text: GM00486 female affected Familial hypercholesterolemia sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND06671 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 49 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06680

text: proband

text: Homo sapiens

text: More than one race

text: Male

text: PD

text: Parkinson disease

text: ND06679 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son of GM04211;see GM04208 Fibroblast;1st cousin twice removed to proband

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04209 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND06679

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND06680 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 58 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Father of GM04208;see GM04211 Lymphoid;mother had HD;1st cousin once removed to proband

text: cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Huntington disease

text: HD

text: GM04210 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND06691 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Huntington disease

text: 58 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father of GM04209;see GM04210 Fibroblast;mother had HD;1st cousin once removed to proband

characteristic: description

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04211 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND06700 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 50 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Early symptoms of HD;daughter of GM04204: see GM04213 Lymphoid;mother had HD;1st cousin once removed to proband

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04212 female affected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND06724 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Huntington disease

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Early symptoms of HD;daughter of GM04205;see GM04212 Fibroblast;mother had HD;1st cousin once removed to proband

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04213 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected brother is ND08616;unaffected brother is ND07189;unaffected sister is ND07191;unaffected brother is ND07267;unaffected brother is ND07332;unaffected sister is ND07612.

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND06751 male affected Als panel caucasian from the united states sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother had HD;1st cousin once removed to proband

characteristic: family id

text: cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Huntington disease

text: HD

text: GM04217 female affected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND06754

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND06753 male affected Epilepsy sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Huntington disease

text: 78 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Choreic movements & dementia;positive family history;46;XY

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04219 male affected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 25 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND06753

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND06754 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 31 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk (50%);daughter of GM04230;see GM04221 Lymphoid;1st cousin twice removed to proband;father had HD

characteristic: family id

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04220 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

characteristic: ethnicity

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND06769 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);daughter of GM04231;see GM04220 Fibroblast;1st cousin twice removed to proband;father had HD

characteristic: description

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM04221 female unaffected Huntington disease sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND06778 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Huntington disease

text: 59 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son of GM04190;see GM04223 Lymphoid;father had HD

characteristic: family id

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04222 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister-in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: ND06779 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son of GM04191;see GM04222 Fibroblast;father had HD

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04223 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND06782 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);mother had HD;1st cousin once removed to proband

characteristic: description

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

characteristic: tag

text: HD

text: GM04225 male unaffected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND06784 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 74 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Reduced at risk;see GM04227 Lymphoid;mother had HD

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04226 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06786

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND06785 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 74 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Reduced at risk;see GM04226 Fibroblast;mother had HD

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04227 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND06785

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND06786 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother had HD;1st cousin once removed to proband

characteristic: family id

text: cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Huntington disease

text: HD

text: GM04229 female affected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND06797 male unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Huntington disease

text: 55 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mother had HD;daughter is GM04220;father is GM04204;see GM04231 Lymphoid;1st cousin once removed to proband

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04230 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND06801 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Huntington disease

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother had HD;father is GM04205;daughter is GM04221;see GM04230 Fibroblast;1st cousin once removed to proband

characteristic: description

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04231 male affected Huntington disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND06808;affected father is ND06809

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND06807 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 70 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Reduced at risk;see GM04233 Lymphoid;mother had HD

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04232 male unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND06807;unaffected spouse of ND06809

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND06808 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 70 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Reduced at risk;see GM04232 Fibroblast;mother had HD

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04233 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected father of ND06807;affected spouse of ND06808

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND06809 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 27 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;low serum alkaline phosphatase level;2 affected children

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Phosphoethanolaminuria - 241500 or 241510

text: Hypophosphatasia

text: GM04234 female unaffected Hypophosphatasia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND06819 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Alkaline phosphatase, liver

text: 5 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Low serum alkaline phosphatase;high urinary phosphoethanolamine;a sib died at age 5 mos from same disease;shows bowing of the long bones & abnormal metaphyses;deficient fibroblast alkaline phosphatase activity;donor subject is a compound heterozygote for two mutations in the ALPL gene: one allele carries a C-to-T transition at nucleotide 387 (387C>T) in exon 4 leading to substitution of cysteine for arginine at amino acid 54 ARG54CYS (R54C) and a second allele carries a A-to-C transversion at nucleotide 1057 (1057A>C) of exon 9 resulting in substitution of alanine for asp277 ASP277ALA (D227A).

text: proband

text: ALPL

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Alkaline phosphatase, liver

characteristic: tag

text: ALPL

text: Hypophosphatasia, infantile

text: GM04235 male affected Alkaline phosphatase, liver sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND06824 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 38 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Hypophosphatasia

text: GM04236 male unaffected Hypophosphatasia sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 18 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND06826.

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND06825 female affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;46;XX

characteristic: family id

text: mother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: XPC

text: GM04237 female unaffected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND06825.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND06826 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;46;XY;12% of cells show random chromosome loss

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM04238 male unaffected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06828

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from north america

text: PD

text: Parkinson disease

text: ND06827 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 33 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Possible heterozygote;clinically normal;46;XY;4% of cells show random chromosome loss

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM04239 male unaffected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND06827

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND06828 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Patient has had 6 spontaneous abortions

text: 46;XX;t(4;6)(4pter>4q25::6p25>6pter;6qter>6p25::4q25>4qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM04240 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: PD

text: 84 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06859

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND06858 female affected PD sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Retinoblastoma

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Japanese;bilateral;46;XX;t(X;13)(p22;q12) in leukocytes;translocated X preferentially inactivated;erythrocyte esterase D type 1-1 in proband;sister and parents

text: JAPANESE

characteristic: ethnicity

text: arr 2q12.2(106253686-107873857)x3;2q13(110212011-110519397)x3;4q31.22(145143587-145252334)x3

text: Homo sapiens

text: Asian

text: Female

characteristic: sex

text: Sporadic

characteristic: tag

text: Retinoblastoma

text: GM04250 female affected Retinoblastoma sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 83 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND06858

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND06859 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 4 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;admitted to hospital at age 4 months with pneumonia;a history of recurrent infections;and failure to thrive;severe combined immunodeficiency was diagnosed based on lymphopenia;decreased immunoglobins;and minimal response of peripheral lymphocytes to mitogens and allogenic cells;at age 4 months;prior to blood transfusions;only trace amounts of adenosine deaminase activity were present in erythrocytes and activity was greatly decreased in lymphocytes and granulocytes;concentrations of dATP and dADP were over 100-fold higher than normal in lymphocytes and erythrocytes;excretion of deoxyadenosine was increased in the urine;no thymic shadow seen on chest x-ray;incompetent humoral and cellular immunity;both parents have heterozygous ADA levels;at age 2.5 years subject was free of infection;at the 10th percentile for height and weight;and had normal psychomotor development;produces normal ADA mRNA;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 1081 in exon 11 of the ADA gene 1081C>T resulting in a substitution of valine for alanine at codon 329 Ala329Val(A329V) and a second allele has a C>T transition at nucleotide 872 in exon 10 of the ADA gene 872C>T resulting in a substitution of leucine for serine at codon 291 Ser291Leu (S291L) .

characteristic: description

text: proband

text: ADA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: Severe combined immunodeficiency autosomal recessive

text: Adenosine deaminase

text: ADA

text: GM04258 male affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND06556;unaffected spouse is ND06557.

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND06862 male 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: 60 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;8% of cells showed random chromosome loss

text: SWEDISH

characteristic: ethnicity

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM04260 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 56 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: RUSSIAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND06869 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 30 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Affected child first showed symptoms at 3 mos of age & died at age 1 yr;proband not in Repository;46;XX

characteristic: description

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: Phosphoethanolaminuria - 241500 or 241510

text: Hypophosphatasia

text: GM04263 female unaffected Hypophosphatasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: RUSSIAN

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND06870 female unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Aspartoacylase

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Jewish;spasticity;retardation and megalencephaly;donor subject is homozygous for an A>C transversion at nucleotide 854 of the ASPA gene 854A>C resulting in a substitution of alanine for glutamic acid at codon 285 Glu285Ala (E285A) .

text: JEWISH

characteristic: ethnicity

text: ASPA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Canavan disease

text: Aspartoacylase

text: ASPA

text: GM04268 male affected Aspartoacylase sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06878.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

characteristic: tag

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND06877 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 20 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 48;rigid form of HD;possible homozygote;both parents affected;onset at age 14 years;neurological exam 3/82 shows a hypokinetic variant of HD with dystonia and marked tremor;ataxic wide-based gait;see GM04282A Lymphoid

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04281 female affected Huntington disease sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected spouse is ND06877.

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Dna control panel for late onset parkinsons: unaffected individuals

text: Neurologically normal caucasian control panel

text: ND06878 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Huntington disease

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 48;rigid form of HD;possible homozygote;both parents affected;onset at age 14 years;neurologic exam 3/82 shows a hypokinetic variant of HD with dystonia and marked tremor;ataxic wide-based gait;46;XX;see GM04281 Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04282 female affected Huntington disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial rupture-status undefined

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial rupture-status undefined

text: ND06905 female affected Intracranial rupture-status undefined sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Code 442;clinically affected;onset at age 27 yrs;mother is GM04772A;father had HD;neuro exam 3/82 shows prominent dyskinesia;fluid eye movements;facial grimacing;& problems swallowing;see GM04807A Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: first cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

characteristic: tag

text: HD

text: GM04284 male affected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND06906 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Huntington disease

text: 40 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Code 659;clinically affected;onset at age 31 yrs;affected sib is GM04287;father is GM04815;neurological exam 3/82 shows bradykinesis;dystonia;and chorea;see GM04286 Lymphoid

characteristic: description

characteristic: family id

text: maternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04285 male affected Huntington disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Intracranial aneurysm - unruptured

text: ND06907 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Huntington disease

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 659;clinically affected;onset at age 31 yrs;affected sib is GM04288;father is GM04814B;neuro exam 3/82 shows bradykinesis;dystonia;& chorea;see GM04285 Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04286 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND02801

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND06918 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 43 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Code 647;clinically affected;onset at age 34 yrs;affected sib is GM04285;affected daughter is GM04723;father is GM04815;neuro exam 3/82 shows bradykinesis;Parkinsonian features;& mild chorea;PD gait & dystonia;see GM04288 Lymphoid

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04287 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 39 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND06936 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Huntington disease

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 647;clinically affected;onset at age 34 yrs;affected sib is GM04286;aff dau is GM04724A;fath is GM04814B;neuro exam 3/82 shows bradykinesis;Parkinsonian features;mild chorea;PD gait & dystonia;see GM04287 Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04288 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial rupture-status undefined

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial rupture-status undefined

text: ND06938 male affected Intracranial rupture-status undefined sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 180;at risk;last examined on 3/19/82;affected parents are GM04477B & GM04479A;10 affected sibs & 1 with probable HD;see GM05551Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: description

characteristic: family id

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04290 female unaffected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06942

text: PUERTO RICAN

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Male

text: PD

text: Parkinson disease

text: ND06941 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Prader-willi syndrome

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;obesity;hypogonadism;small hands & feet;4 affected cousins;Acadian descendant of So Louisiana;16% of fibroblasts show random chromosome loss;46;XX

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: PWS

text: Prader-willi syndrome

text: GM04297 female affected Prader-willi syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected spouse is ND06941.

text: PUERTO RICAN

text: spouse

text: Homo sapiens

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND06942 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Translocated chromosome

text: 7 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mental retardation and developmental delay;cannot speak;can walk and run;aggressive;frontal bossing;epicanthal folds;lowset ears;ptosis of left eye;no binocular fixation;searching movements or alternating convergence;height = 100cms;cannot rule out (p32;q13)

text: 46;XX;t(1;2)(1qter>1p32::2q11>2qter;2pter>2q11::1p32>1pter);46;XX;t(1;2)(2qter->2q11::1p32->1qter;2pter->2q11::1p32->1pter).arr 1q23.3(159763523-159904813)x1

text: Homo sapiens

text: Asiatic Indian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM04300 female affected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Dementia with lewy bodies

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND06947

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Dementia with lewy bodies

text: ND06946 male affected Dementia with lewy bodies sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Infantile onset;visceromegaly;dysostosis multiplex;normal stature and intelligence;deficient beta-galactosidase and neuraminidase activity in fibroblasts;see GM00806 Fibroblast

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM04305 female affected Neuraminidase deficiency with beta-galactosidase deficiency sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND06946

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND06947 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal beta-galactosidase;neuraminidase & GM3 sialidase activity;normal sialic acid content;see GM06092A Lymphoid;clinically unaffected father of GM00806

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM04306 male unaffected Neuraminidase deficiency with beta-galactosidase deficiency sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 27 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND06958 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal beta-galactosidase & neuraminidase activity;see GM06091 Lymphoid;clinically unaffected mother of GM00806

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM04307 female unaffected Neuraminidase deficiency with beta-galactosidase deficiency sample


text: Coriell

text: live

text: Generic

text: 26 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND06959 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Onset of lethargy & vomiting at age 3 weeks;severe mental retardation;growth retardation;CPS deficiency confirmed by liver biopsy

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM04311 female affected Carbamoyl phosphate synthetase i deficiency sample


text: Coriell

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND06960 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Japanese;XP20S;SV40 transformed;severe XP;mental retardation;gait disturbance;see GM02345 lymphoblast;increased chromosome breakage;< 2% of normal UV induced unscheduled DNA synthesis;T-antigen positive;donor subject is homozygous for the G-to-C transversion at the 3-prime splice acceptor site of intron 3 of the XPA gene;abolishing the canonical 3-prime splice site and creating two abnormally spliced mRNA forms.

characteristic: description

text: JAPANESE

characteristic: ethnicity

text: proband

text: XPA

characteristic: gene

text: 3-PRIME SPLICE SITE

characteristic: mutation

text: INTRON 3

text: Homo sapiens

text: Asian

text: Female

text: XPA

text: GM04312 female affected Xeroderma pigmentosum, complementation group a sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND06973;unaffected father is ND06974

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND06972 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: XPF

text: 64 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Japanese;XP2YO;mild symptoms of XP;skin cancers;10% of normal post UV unscheduled DNA synthesis;died of bile duct cancer at age 65;see GM08437B SV40 Transformed Fibroblast;donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 1937 of the ERCC4 gene (1937delT) resulting in a frameshift at codon 646 and a stop codon at 673 (646fsX673 and the second allele has an A>G transition at nucleotide 1666 (1666A>G) resulting in the substitution of alanine for threonine at codon 556 Thr556Ala (T556A)

text: JAPANESE

text: proband

text: Homo sapiens

text: Asian

characteristic: race

text: Female

text: Xeroderma pigmentosum, complementation group f

text: Excision-repair: complementing defective in chinese hamster 4

text: XPF

text: GM04313 female affected XPF sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother of ND06972;unaffected spouse is ND06974

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND06973 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Japanese;XP30S;severe XP;mental retardation;gait disturbance;less than 2% of normal post UV unscheduled DNA synthesis;passage 10 at CCR;slow growing culture;affected sister is GM02345;donor subject is homozygous for the G-to-C transversion at the 3-prime splice acceptor site of intron 3 of the XPA gene;abolishing the canonical 3-prime splice site and creating two abnormally spliced mRNA forms.

characteristic: description

text: JAPANESE

characteristic: ethnicity

text: sister

text: XPA

characteristic: gene

text: 3-PRIME SPLICE SITE

characteristic: mutation

text: INTRON 3

text: Homo sapiens

text: Asian

text: Female

text: XPA

text: GM04314 female affected Xeroderma pigmentosum, complementation group a sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND06972;unaffected spouse is ND06973

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND06974 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 41 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;also heterozygous for G6PD (B/A-);elevated serum CPK of 598;proband not in Repository;three affected brothers;1 affected son;donor subject shows a deletion of exon 44 of the dystrophin gene by multiplex ligation probe amplification (MLPA) analysis

text: DMD

text: arr Xp21.1(32035077-32171498)x1;8p23.1(7174029-7836249)x4;10q22.3(81220825-81487772)x3

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM04315 female unaffected DMD sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 87 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND06980 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Spinocerebellar ataxia

text: 58 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Staggering wide based gait;type II muscle atrophy;Retinitis pig;internuclear ophthalmoplegia;hyperactive DTR3+;bilateral ptosis;divergent strabismus;2 sibs & maternal aunt affected;46;XY/46;XY;del(13)(q14q22);92%/8%

characteristic: description

text: 46;XY;del(13)(pter>q14::q22>qter) 4 /46;XY 46

text: Homo sapiens

text: Black

text: Male

text: Spinocerebellar ataxia

text: GM04319 male affected Spinocerebellar ataxia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND06981 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: CF

text: 17 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Advanced pulmonary disease;pancreatic insufficiency;pneumothorax;no diabetes;elevated sweat electrolytes;defective fibroblast cAMP stimulated Cl channel;donor subject is homozygous for the deltaF508 deletion mutation (PHE508DEL)

text: proband

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM04320 male affected CF sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 48 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND06982 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: CF

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Advanced pulmonary disease;pancreatic insufficiency;no diabetes;malnutrition;elevated sweat electrolytes;a sib died of cystic fibrosis at age 7;donor subject is homozygous for the deltaF508 deletion mutation (PHE508DEL)

text: proband

text: CFTR

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: CF

characteristic: tag

text: Cystic fibrosis

text: CFTR

text: GM04322 female affected CF sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: African American

text: Male

text: Subarachnoid hemorrhage

text: ND06985 male affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 45 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal sweat electrolytes;2 affected children

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: GM04323 female unaffected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Male

text: Intracranial aneurysm - unruptured

text: ND06986 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Citrullinemia

text: 2 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: No detectable argininosuccinate synthetase activity;parents are first cousins;growth and developmental delay

text: Homo sapiens

text: Caucasian

text: Female

text: Citrullinemia

text: Classic

text: GM04326 female affected Citrullinemia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Intracranial rupture-status undefined

text: ND06999 male affected Intracranial rupture-status undefined sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: DMD

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with DMD;Sardinian;normal G6PD;1 affected brother 1 affected sororal nephew;donor subject shows a duplication of exons 5-7 of the dystrophin gene by multiplex ligation probe amplification (MLPA) analysis

text: SARDINIAN

characteristic: ethnicity

text: proband

text: DMD

characteristic: gene

text: arr Xp21.1(32737385-32760085)x2

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM04327 male affected DMD sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND07001 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Campomelic dysplasia

text: 6 WK

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Multiple abnormalities of extremities including anterior bending of the femur & tibia;2 maternal uncles have a history of congenital deformities of the lower limbs;normal fibroblast alkaline phosphatase activity;46;XX

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Campomelic dysplasia

text: GM04329 female affected Campomelic dysplasia sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND07010 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: CF

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Classic CF with pancreatic insufficiency;elevated sweat electrolytes;see GM04331 Fibroblast;donor subject is a compound heterozygote: one allele has a deletion of A at nucleotide 444 (444delA) in exon 4 which results in a frameshift and a second allele carries a G-to-A substitution at nucleotide 1812-1 in intron 11 which results in an mRNA splicing defect in the CFTR gene 1812-1G-A

text: proband

text: CFTR

characteristic: gene

characteristic: mutation

text: IVS11-1G>A (1812-1G>A)

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM04330 male affected CF sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: African American

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND07018 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Cystic fibrosis

text: 20 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Classic CF with pancreatic insufficiency;elevated sweat electrolytes;see GM04330 Lymphoid

text: proband

text: Homo sapiens

text: Black

text: Male

text: CF

text: Cystic fibrosis

text: GM04331 male affected Cystic fibrosis sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND07024 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 50 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM04337 male unaffected Cystic fibrosis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND07026 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal sweat electrolytes;2 affected children

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: GM04338 female unaffected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: FATHER- MS

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND07038 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: CF

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Advanced chronic pulmonary disease;no pancreatic involvement;elevated sweat electrolytes;a sib died at age 4 with meconium ileus;defective fibroblast cAMP-stimulated Cl- channel;donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (PHE508DEL) and a second allele carries a G-to-A substitution at nucleotide 386 (386G>A) which converts the gly-85 codon (GGA) to a glu (GAA);resulting in a missense mutation in exon 3 in the CFTR gene GLY85GLU (G85E)

text: proband

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM04339 male affected CF sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND07039 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Zellweger syndrome

text: 2 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Spanish;severe failure to thrive;typical facies;generalized amino-aciduria;epiphyseal stippling in the knees;eye findings include zonular cataracts;absent ERG and abnormal VER;elevated C26: C22;46;XX

text: SPANISH

characteristic: ethnicity

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Zellweger syndrome

text: ZS

text: GM04340 female affected Zellweger syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: FATHER- MS.

characteristic: description

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND07040 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: CF

text: 25 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Classic CF with pancreatic insufficiency & diabetes mellitus;elevated sweat electrolytes;see GM04346 Fibroblast;donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (PHE508DEL) and a second allele carries a G-to-A substitution at nucleotide 3978 (3978G>A) which converts the trp-1282 codon (TGG) to a stop codon (TGA);resulting in a nonsense mutation in exon 20 in the CFTR gene TRP1282TER (W1282X)

text: proband

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: CF

characteristic: tag

text: Cystic fibrosis

text: CFTR

text: GM04345 male affected CF sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 8 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND07042

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND07041 male affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: CF

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Classic CF with pancreatic insufficiency & diabetes mellitus;elevated sweat electrolytes;see GM04345 Lymphoid;1 allele has the F508 deletion mutation PHE508DEL

characteristic: description

characteristic: family id

text: proband

text: CFTR

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM04346 male affected CF sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND07041.

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND07042 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 38 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal

text: JEWISH

characteristic: ethnicity

text: proband

text: 47;XX;+idic(15)(pter>q11.2::q11.2> pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Inverted chromosome

characteristic: tag

text: GM04347 female unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 14 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND07044

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND07043 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected with Duchenne muscular dystrophy;mother of GM04364.

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Muscular dystrophy: duchenne type

text: DMD

text: GM04363 female unaffected Muscular dystrophy: duchenne type sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND07043

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND07044 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: DMD

text: 13 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Duchenne muscular dystrophy;diagnosed sometime before age 10;calf hypertrophy;Gower's maneuver;ambulatory at age 10;muscle testing at age 10 showed most muscles to be in fair to poor range but good muscle power demonstrated in hamstrings;posterior and anterior tibs and upper trapezius;at age 10 there were tight heelcords;tightness of the hip flexors;hamstrings and knees;son of GM04363;elevated CPK;muscle biopsy showed classical histological findings of Duchenne muscular dystrophy;donor subject shows a deletion of exons 51-55 of the dystrophin gene by multiplex ligation probe amplification (MLPA) analysis

text: proband

text: DMD

characteristic: gene

text: arr Xp21.1(31518395-31688047)x0

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Muscular dystrophy: duchenne type

text: DMD

text: Dystrophin

text: GM04364 male affected DMD sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Female

characteristic: tag

text: ND07053 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: KSS

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected with Kearns-Sayre syndrome;frequent episodes of dehydration between ages 2-3;poor growth started about age 2-3;small stature diagnosed at age 5;by age 11 there was pigmentary retinopathy;absent deep tendon reflexes;2/4 weakness of the proximal muscles of the shoulders and hips;weakness of the trapezius group;and ocular muscle weakness;dry and course skin and hair;mild bilateral high frequency sensorineural hearing loss;growth hormone deficiency;hypopituitarism;ptosis;nystagmus;strabismus;occasional diplopia;no heart block;lymphoblasts from the donor subject (collected at age 12) underwent mitochondrial DNA mutation analysis: no large deletion was identified in the lymphoblastoid cell line but a mutation commonly seen in subjects with Leber s Hereditary Optic Neuropathy was identified;donor subject was found to carry a G>A transition at nucleotide 11778 in the MTND4 gene of the mitochondrial genome 11778G>A resulting in a substitution of histidine for arginine at codon 340 Arg340His(R340H) .

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Kearns-sayre syndrome

text: KSS

text: Complex i, subunit nd4

text: GM04368 male affected KSS sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Male

text: Population/convenience control

text: ND07055 male unaffected Ninds repository hispanic control plate- coaims tested sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 4 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Microcephaly;earpits;micrognathia;mentally retarded

text: proband

text: 47;XX;+der(22)(22pter>22q11:: 11q23>11qter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM04370 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND07060 male affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 4 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Black/Caucasian;multiple anomalies;partial trisomy 5q

text: BLACK/CAUCASIAN

characteristic: ethnicity

text: proband

text: 46;XY;der(2)(2qter>2p25:: 5q33>5qter)mat;46;XY;der(2)t(2;5)(5qter->5q33::2p25->2qter)mat.arr 2p25.3(2771-479043)x1;5q33.3q35.3(158034852-180652396)x3

text: Homo sapiens

text: More than one race

text: Male

text: Translocated chromosome

text: GM04371 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: More than one race

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND07063 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tyrosine transaminase deficiency

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Seizures;mental retardation;normal fibroblast p-hydroxyphenylpyruvic hydroxylase activity;deficient cytosolic tyrosine aminotransferase activity

characteristic: description

text: Homo sapiens

text: American Indian

text: Female

text: Tyrosine transaminase deficiency

text: GM04374 female affected Tyrosine transaminase deficiency sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND07085 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 21 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Klinefelter's syndrome variant

text: 48;XXYY;48;XXYY.arr Xp22.33q28(108464-154887040)x2;Yp11.31p11.223(2710425-23302179)x2;Yq11.23q12(26868023-27209311)x2

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Klinefelter syndrome

text: Xxy syndrome

text: GM04375 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND07098 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 25 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Hydrocephalic;stillborn;no other abnormalities

text: Homo sapiens

text: Caucasian

text: Female

text: Triploid chromosome number

characteristic: tag

text: GM04376 female unaffected Triploid chromosome number sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND07107

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND07106 male affected Als panel caucasian from the united states sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 23 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (left forearm);46;XX;fibroblasts have approximately 49% of control alpha-galactosidase activity;donor is healthy with a negative family history for Fabry;molecular analysis showed the donor subject has no mutation in the GLA gene;but does have a silent polymorphism (P6P)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Fabry disease

text: Apparently healthy non-fetal tissue

text: GM04390 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND07106

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND07107 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Fabry disease

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Cardiac variant;mild clinical manifestations;residual alpha-galactosidase A activity in fibroblasts and WBC;no activity in plasma;46;XY;donor subject is hemizygous for an A>G transition in exon 5 of the GLA gene (AAT>AGT) resulting in the substitution of serine for asparagine at codon 215 Asn215Ser (N215S)

text: GLA

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Galactosidase, alpha

text: Fabry disease

text: GLA

text: GM04391 male affected Fabry disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 61 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: DOMINICAN REPUBLICAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Female

text: Parkinson disease

text: ND07121 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Gaucher disease type i

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Hepatosplenomegaly;bone pain;no family history of disease;no neurologic abnormalities at age 2;5% of control fibroblast glucocerebrosidase activity;donor subject is heterozygous for a T>C transition at nucleotide 1448 in exon 10 of the GBA gene 1448T>C resulting in a substitution proline for leucine at codon 444 Leu444Pro (L444P) codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG .

characteristic: description

text: GBA

text: Homo sapiens

text: Black

text: Male

text: Gaucher disease type i

characteristic: tag

text: GBA

text: Glucosidase acid beta

text: GM04394 male affected Gaucher disease type i sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND07126 female affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 6 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;erythrocyte ADA deficiency diagnosed as part of a newborn screening program;transient diaper rash and oral thrush in first months of life;in first 2 years of life had a few colds and several episodes of otitis media;normal development with height and weight at 90th percentile;total lymphocyte counts were normal with 70% T cells on repeated determinations;delayed hypersensitivity to Candida albicans and mumps was present;responses of peripheral lymphocytes to PHA and allogeneic cells were normal;immunoglobulin levels rose appropriately with age;radiographs of chest;skull;and pelvis were normal;ADA activity in erythrocytes is undetectable;ADA enzyme activity in peripheral lymphocytes is 0.9% of control values with an immunoreactive ADA protein present at 1.6% of normal CRM;ADA activity and immunoreactive protein in lymphoblast culture detectable at 4% of control;ADA activity in fibroblasts detectable at 14% of control;dATP in RBC's is elevated;parents and brother have heterozygous levels of ADA activity;donor subject is a compound heterozygote: one allele has a T>C transition at nucleotide 320 in exon 4 of the ADA gene 320T>C resulting in a substitution of proline for leucine at codon 107 Leu107Pro (L107P) and a second allele has a C>T transition at nucleotide 631 of the ADA gene 631C>T resulting in a substitution of cysteine for arginine at codon 211 Arg211Cys (R211C);same donor as GM04396 lymphocyte.

text: proband

text: ADA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Severe combined immunodeficiency autosomal recessive

text: Adenosine deaminase

text: ADA

text: GM04395 male affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND07127 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: 6 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Phenotypically normal;erythrocyte ADA deficiency diagnosed as part of a newborn screening program;transient diaper rash and oral thrush in first months of life;in first 2 years of life had a few colds and several episodes of otitis media;normal development with height and weight at 90th percentile;total lymphocyte counts were normal with 70% T cells on repeated determinations;delayed hypersensitivity to Candida albicans and mumps was present;responses of peripheral lymphocytes to PHA and allogeneic cells were normal;immunoglobulin levels rose appropriately with age;radiographs of chest;skull;and pelvis were normal;ADA activity in erythrocytes is undetectable;ADA enzyme activity in peripheral lymphocytes is 0.9% of control values with an immunoreactive ADA protein present at 1.6% of normal CRM;ADA activity and immunoreactive protein in lymphoblast culture detectable at 4% of control;ADA activity in fibroblasts detectable at 14% of control;dATP in RBC's is elevated;parents and brother have heterozygous levels of ADA activity;donor subject is a compound heterozygote: one allele has a T>C transition at nucleotide 320 in exon 4 of the ADA gene 320T>C resulting in a substitution of proline for leucine at codon 107 Leu107Pro (L107P) and a second allele has a C>T transition at nucleotide 631 of the ADA gene 631C>T resulting in a substitution of cysteine for arginine at codon 211 Arg211Cys (R211C);same donor as GM04395 fibroblast.

characteristic: description

text: proband

text: ADA

text: Homo sapiens

text: Caucasian

text: Male

text: Adenosine deaminase

text: ADA

text: GM04396 male affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND07132 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: mother

text: 46;XX;t(11;22)(11pter>11q23::22q11> 22qter;22pter>22q11::11q23>11qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM04403 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: ND07133 female unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 4 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B.S. Registry #87;stunted growth;minimal freckling over malar area;normal intelligence;normal sister chromatid exchange in lymphoblast culture;as resistant to killing by ethyl methanesulphonate as control sample;high level of DNA ligase I activity;similar to that of controls;donor subject is a compound heterozygote: one allele has a 6-bp deletion/7-bp insertion 2281_2286delins7 at nucleotide 2;281 of the open reading frame of the RECQL3 gene that results in a frameshift and a stop codon and a second allele has 1-bp deletion at nucleotide 3233 3233delT of the RECQL3 gene resulting in a frameshift and premature termination;same donor as GM03498 fibroblast.

text: JEWISH/ENGLISH

characteristic: ethnicity

text: proband

characteristic: gene

characteristic: mutation

text: 6-BP DEL/7-BP INS

text: Homo sapiens

text: Caucasian

text: Male

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM04408 male affected RECQL3 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND07152 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental retardation and congenital malformations

characteristic: description

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

characteristic: tag

text: GM04409 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND07165 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 27 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal

text: mother

text: 46;XX;t(2;14)(2qter>2p23::14q32>14qter;14pter>14q32::2p23>2pter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM04410 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND07166 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Albright hereditary osteodystrophy

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hypocalcemia;hypothyroidism;brachydactyly;obese;onset at age 14;responsive to Vitamin D;deficient N protein in erythrocytes;platelets & lymphoid culture;only affected family member

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: AHO

text: Albright hereditary osteodystrophy

text: GM04411 female affected Albright hereditary osteodystrophy sample


text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected brother is ND06751;unaffected brother is ND08616;unaffected sister is ND07191;unaffected brother is ND07267;unaffected brother is ND07332;unaffected sister is ND07612.

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND07189 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Albright hereditary osteodystrophy

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Pseudo-pseudohypoparathyroidism;intermittent hypocalcemia;hypothyroidism;short stature;elevated serum PTH;normal urinary response to PTH;normal N protein in erythrocytes & lymphoid culture

text: Homo sapiens

text: Caucasian

text: Female

text: AHO

text: Albright hereditary osteodystrophy

text: GM04425 female affected Albright hereditary osteodystrophy sample


text: Coriell

text: live

text: Generic

text: 58 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected brother is ND06751;unaffected brother is ND07189;unaffected brother is ND08616;unaffected brother is ND07267;unaffected brother is ND07332;unaffected sister is ND07612.

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND07191 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Albright hereditary osteodystrophy

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Brachydactylia;short stature;obesity;hypocalcemia;hypothyroidism;subcutaneous calcifications;elevated serum PTH;decreased urinary response to PTH;prolactin deficiency;resistance to ADH;reduced N protein in lymphoid culture

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: AHO

text: Albright hereditary osteodystrophy

text: GM04426 male affected Albright hereditary osteodystrophy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND07204 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Albright hereditary osteodystrophy

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Brachydactylia;short stature;hypocalcemia;hypothyroidism;prolactin deficient;elevated serum PTH;decreased urinary response to PTH;ADH resistance;reduced N protein in lymphoid culture

text: Homo sapiens

text: Caucasian

text: Male

text: AHO

text: Albright hereditary osteodystrophy

text: GM04427 male affected Albright hereditary osteodystrophy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND07207 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Albright hereditary osteodystrophy

text: 30 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mexican/Amer;intermittent hypocalcemia;prolactin deficiency;resistance to parathyroid hormone at bone & kidney;elevated serum PTH;decreased urinary response to PTH;no skeletal abnormalities;normal N protein in lymph culture

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: AHO

text: Albright hereditary osteodystrophy

text: GM04428 male affected Albright hereditary osteodystrophy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 65 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: ND07208 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP12BE;SV40 transformed;passage 7 at CCR;see GM02250 (lymphoblast) and GM05509 (fibroblast);multiple skin cancers;acute sun sensitivity;progressive neurological degeneration;less than 2% of normal UV induced unscheduled DNA synthesis in fibroblasts;T-antigen positive;the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 with results in a missplice;the second allele carries a G-to-T transversion in intron 3 which abolishes the canonical 3-prime splice site and results in a missplice.

characteristic: description

text: proband

text: XPA

characteristic: gene

text: Chromosome no. ranges from 52 to 139 marker chromosomes: iso(1q);iso(13q);& 15p+

characteristic: karyotype

characteristic: mutation

text: G>T transversion in intron 3

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: XPA

text: GM04429 female affected Xeroderma pigmentosum, complementation group a sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Parkinson disease

text: ND07240 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 31 YR

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Amenorrhea;polycystic ovaries;short stature;70% 45;X at passage 13

text: 45;X 35 /46;X;idic(X)(qter>p22::p22>qter) 15;45;X 40 /44;X;-12 5 /45;X;add(12)(pter>q24.3::?) 3 /46;X;idic(X)(qter>p22::p22>qter) 2;45;X 42 /46;X;idic(X)(qter>p22::p22>qter) 8

text: Homo sapiens

text: Caucasian

text: Female

text: Isodicentric chromosome

text: GM04430 female unaffected Isodicentric chromosome sample

characteristic: title