characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 71 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND04035 male affected Subarachnoid hemorrhage sample


status: PUBLIC

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Basal cell nevus syndrome

tag: attribute

text: 53 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Basal cell carcinoma;biopsy taken from skin lesion;see GM01656A Lymphoid;same patient as GM01657;46;XY;18% of cells show random translocations

characteristic: description

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: BCNS

characteristic: tag

text: Basal cell nevus syndrome

text: GM01658 male affected Basal cell nevus syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND04039 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal blood HPRT;carrier by hair root assay;clinically unaffected mother of GM01660;01661;and 01662A

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: LNS

text: Lesch-nyhan syndrome

text: GM01659 female unaffected Lesch-nyhan syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 58 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: WELSH

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND04040 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal blood HPRT;carrier by hair root assay

characteristic: description

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: LNS

text: Lesch-nyhan syndrome

text: GM01660 female unaffected Lesch-nyhan syndrome sample


text: Coriell

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04106

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: Als panel caucasian from the united states

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND04051 male affected ALS1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: LNS

text: Lesch-nyhan syndrome

text: GM01661 female unaffected Lesch-nyhan syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 74 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04069

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel lower-limb onset

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND04052 female affected Als panel lower-limb onset probable and possible als sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Lesch-nyhan syndrome

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: No detectable HPRT and normal APRT activity;has an exon 2;3 duplication in the HPRT1 gene and a correspondingly elongated HPRT mRNA;see GM06804B Lymphoid;atypical disease: lacks compulsive self-mutilation and mental retardation

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: LNS

text: Hypoxanthine guanine phosphoribosyltransferase 1

text: Lesch-nyhan syndrome

text: HPRT

text: GM01662 male affected Lesch-nyhan syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND04108

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel lower-limb onset

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND04054 male affected Als panel lower-limb onset probable and possible als sample


text: Coriell

text: live

text: Generic

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Partial trisomy 13;severe mental and motor retardation

characteristic: description

characteristic: family id

text: proband

text: 46;XY;der(17)(17qter>17p13::13q14>13qter)mat

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

text: GM01663 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04067

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND04056 male affected Als panel caucasian from the united states sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal

text: 46;XY;t(9;13)(9pter>9q13::13q12>13qter;13pter>13q12::9q13>9qter)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM01664 male unaffected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND04061;unaffected father is ND04062;unaffected sister is ND04063

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND04060 male affected ALS1 sample


text: Coriell

text: live

text: Generic

text: 28 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal

characteristic: description

text: 46;XX;t(12;21)(12qter>12p11::21p11> 21pter;21qter>21p11::12p11>12pter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM01665 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of an affected son (ND04060) and an unaffected daughter (ND04063);spouse of ND04062

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND04061 female 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: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM01667 female unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of an affected son (ND04060) and an unaffected daughter (ND04063);spouse of ND04061

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: ND04062 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: G6PD type B

text: Homo sapiens

text: Caucasian

text: Male

text: Triploid chromosome number

text: GM01672 male unaffected Triploid chromosome number sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 31 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister of ND04060;daughter of ND04061 and ND04062

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND04063 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 1 DA

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Apomutase mutant

text: Homo sapiens

text: Caucasian

text: Male

text: GM01673 male affected Methylmalonicaciduria due to methylmalonic coa mutase deficiency sample


text: Coriell

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND04056

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND04067 female 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: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Cobalamin A mutant;line no 245

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM01674 female affected Methylmalonicaciduria, vitamin b12-responsive due to defect in synthesis of adenosylcobalamin--cbl a sample


text: Coriell

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04052

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND04069 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tay-sachs disease

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal B-hexosaminidase A alpha and beta chains;cDNA and genomic DNA of the GM2 activator protein gene are homozygous for a T>C412 transition that results in a substitution of Cys-138 by Arg;normal levels of activator protein mRNA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

text: Tay-sachs disease

characteristic: tag

text: Ab variant

text: GM01675 female affected Tay-sachs disease sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 47 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04065

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND04071 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: OCRL

text: 10 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Positive family history;clinically affected;donor subject is hemizygous for a C>T transition at nucleotide 2479 in the OCRL gene (2479C>T)resulting in a premature stop at codon 827 Arg827Ter (R827X)

text: OCRL

text: Homo sapiens

text: Caucasian

text: Male

text: Ocrl gene

text: OCRL

text: Lowe oculocerebrorenal syndrome

text: GM01676 male affected OCRL sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND04085

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND04084 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Citrullinemia

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mild mental retardation;increased plasma citrulline;a sib died of citrullinemia;deficient ASS activity;no detectable enzyme antigen;possible compound heterozygote by mRNA analysis;same patient as GM03056;see GM01685 Lymphoid

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Citrullinemia

text: Classic

text: GM01679 male affected Citrullinemia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND04084

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND04085 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: 71 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (left forearm);mother of GM01653;grandmother of GM01651B and 01652B

text: paternal grandmother

text: 46;XX;46;XX;t(4;11) 8 /46;XX 46

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM01680 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04089 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 70 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (left forearm);father of GM01653;grandfather of GM01651B and 01652B;46;XY;4% of cells show random chromosome loss and 4% have a rearranged chromosome #13

text: paternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM01681 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND04099 male affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Possible red cell acid phosphatase variant;slow growing culture

characteristic: description

characteristic: family id

text: proband

text: 46;XX;t(2;10)(2qter>2p23::10q26> 10qter;10pter>10q26::2p23>2pter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM01683 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND04100 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Citrullinemia

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Neonatal;deficient Argininosuccinate synthetase;no detectable enzyme antigen

text: Homo sapiens

text: Caucasian

text: Female

text: Citrullinemia

characteristic: tag

text: Classic

text: GM01684 female affected Citrullinemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

text: ND04102 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Citrullinemia

text: 1 DA

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01679 Fibro;HLA type A1;Aw32;B18;B27;deficient Argininosuccinate synthetase;a sib died of citrullinuria

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Citrullinemia

text: Classic

text: GM01685 male affected Citrullinemia sample


text: Coriell

text: live

text: Generic

text: 54 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND04053

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND04107 female unaffected Population/convenience control sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Ehlers-danlos syndrome type ii

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Same patient as GM02006;clinically affected

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Ehlers-danlos syndrome type ii

text: GM01691 male affected Ehlers-danlos syndrome type ii sample


text: Coriell

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04054

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND04108 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Muscular dystrophy: duchenne type

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected female;de novo balanced chromosome translocation;repeated CPK levels in the family suggest the mother is not a DMD carrier;elevated CPK and aldolase levels;typical EMG and muscle biopsy histology consistent with a dystrophy;in blood leukocytes;the normal X shows non-random inactivation;dystrophin gene shows no detectable deletion or duplication by multiplex PCR.

text: 46;X;t(X;11)(Xqter>Xp21::11q13>11qter;11pter>11q13::Xp21>Xpter);46;X;t(X;11)(Xqter>Xp2105::11q13>11qter;11pter>11q13::Xp2105>Xpter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Muscular dystrophy: duchenne type

text: Translocated chromosome

text: DMD

text: GM01695 female affected Muscular dystrophy: duchenne type sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND04124;unaffected father is ND04125

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND04123 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 30 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Secondary amenorrhea;phenotypically normal;G6PD type B;normal X is late replicating;slow growing culture

text: 46;X;t(X;7)(Xpter>Xq21::7p22>7pter;7qter>7p22::Xq21>Xqter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM01696 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother of ND04123;spouse of ND04125

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND04124 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Non-diabetic;3 affected children;see GM01797 Lymphoid

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Wolfram syndrome

text: GM01701 male unaffected Wolfram syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND04123;spouse of ND04124

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND04125 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 9 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 2nd generation with transferase deficiency galactosemia;GALT gene mutations: Gln188Arg (Q188R) / Gln188Arg (Q188R)

text: proband

text: GALT

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: GALT

text: Galactosemia

text: GM01703 male affected Galactose-1-phosphate uridylyltransferase sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND04132 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 2 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 2nd generation with transferase deficiency galactosemia;GALT gene mutation is Gln188Arg (Q188R) /?;2nd allele is negative for R333W and N314D

text: cousin

text: GALT

text: Homo sapiens

text: Caucasian

text: Male

text: GALT

text: Galactosemia

text: GM01704 male affected Galactose-1-phosphate uridylyltransferase sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: WELSH

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND04133 female unaffected Control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 82 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;formerly GM00237;skin biopsy (left forearm);14% of cells show random chromosome loss/gain and 2% show random chromosomal aberrations

characteristic: description

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM01706 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND04135 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: CF

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Confirmed by dexamethasone resistance;formerly GM01008;the donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL)

text: proband

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CF

characteristic: tag

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM01707 female affected CF sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 35 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: identical twin sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04136 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 33 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Formerly GM01010;2 affected sons

characteristic: description

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM01708 male unaffected Cystic fibrosis sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND04140 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Gonadal dysgenesis;8 of 12 karyotypes have an additional t(1;5);biopsy of gonadal streak;DNA from fibroblasts does not hybridize Y-chromosome-specific DNA probes mapping near to the putative testis determining locus

text: 46;X;idic(Y)(qter->p11.2::p11.2->qter).arr Xp22.33(108464-2704240)x1;Yp11.2q12(10367247-27209311)x2

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Gonadal dysgenesis

text: Dicentric chromosome

text: GM01709 female unaffected Dicentric chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04152

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND04151 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 21 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HLA type Aw32;A10;Bw15;B14;(A3);UV irradiation sensitive;pigmentary retinopathy symptoms;gait defect;see GM01098 Fibroblast;patient is CS5HO;fibroblasts are assigned to complementation group B;normal DNA ligase I and II activity;donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 3614 in exon 18 of the ERCC6 gene (3614delT) causing a frameshift beginning at codon 1179 and ending with a stop codon at 1200 (1179fsX1200);the second allele has a deletion of exon 10 (del665_723)

text: proband

characteristic: gene

text: DEL EX10

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: CSB

text: Excision-repair cross-complementing group 6

text: Cockayne syndrome type b

text: GM01712 male affected ERCC6 sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04151

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND04152 female unaffected Neurologically normal caucasian control panel sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;failure to thrive;multiple pneumonias and oral/skin moniliasis;long-term hospitalization starting at age 26 months: immunologic studies showed variable but persistent lymphopenia;low numbers of T lymphocytes;relatively increased percentage of B lymphocytes;bone marrow aspirate with few lymphocytes or plasma cells;lymph node biopsy revealed a hypoplastic node with follicles but largely absent T-dependent areas and sinus histiocytosis;quantitative immunoglobins remained normal;height and weight increased to 25th-50th percentile by age 6 years but subject remained lymphopenic;between ages 11-14 years the absolute lymphocyte count was normal with a normal percentage of T cells;no medical problems at age 20 years (no theapy from age 13-20 years);HLA type A2;30;B7;39;enzyme phenotypes: 6PGD=A;G6PD=A;Peptidases A;C;&D=1;Acid A-glucosidase=1;Neutral A-glucosidase C=3;& GLO-1=2;46;XY;ADA activity shortly after diagnosis was 1% of normal in erythrocytes and 18% of normal in mixed mononuclear cells;ADA in both cultured lymphoid and fibroblast cell lines established at diagnosis showed deficiency of ADA with <1% of normal ADA activity;a lymphoid cell line established at age 16 years exhibited >50% of normal ADA activity;studies performed on the lymphoid and fibroblast cell lines established at the time of diagnosis found the donor subject to be a compound heterozygote: one allele has a G>A transition at nucleotide 302 in exon 4 of the ADA gene 302G>A resulting in a substitution of glutamine for arginine at codon 101 Arg101Gln(R101Q) and a second allele has a splice-donor-site mutation in IVS1(+1GT>CT) resulting in an unstable mRNA;the B cell line expressing ADA activity (established at age 16 years) contained the missense Arg101Gln mutation but lacked the splice-site mutation;donor subject determined to have somatic mosaicism;same donor as GM02445 fibroblast.

text: proband

text: ADA

characteristic: karyotype

text: G>C

text: Homo sapiens

text: Black

characteristic: race

text: Male

characteristic: sex

text: Severe combined immunodeficiency autosomal recessive

text: Adenosine deaminase

text: ADA

text: GM01715 male affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected sister of two unaffecteds females (ND04154 and ND04155)

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND04153 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;16% of cells show random chromosome loss/gain;normal RBC G6PD level and Xg(a) antigen absent;skin biopsy (forearm)

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM01717 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected sister is ND04153;unaffected sister is ND04155

characteristic: description

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND04154 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Neuraminidase deficiency

text: 2 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Less than 1% of normal neuraminidase activity;coarse facies;hepatosplenomegaly;dysostosis multiplex;normal mental development

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Neuraminidase deficiency

text: GM01718 female affected Neuraminidase deficiency sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister is ND04154;affected sister is ND04153

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND04155 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 53% of normal neuraminidase activity employing 4-MU-NeuAc;107% of control employing GD1a ganglioside;clinically unaffected mother of GM01718A

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Neuraminidase deficiency

text: GM01719 female unaffected Neuraminidase deficiency sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: PD

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01429;affected daughter is ND01426;unaffected granddaughter is ND01428

text: father

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Late onset parkinsons dna panel: affected individuals

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND04159 male affected PD sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 26 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Low normal neuraminidase activity with fetuin as substrate;normal activity using MPN as substrate;clinically unaffected father of GM01718A

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Neuraminidase deficiency

characteristic: tag

text: GM01720 male unaffected Neuraminidase deficiency sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 17 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: caucasian

text: Intracranial aneurysm - unruptured

text: ND04167 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Androgen receptor

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;abdominal skin fibroblast culture;genital tissue fibroblast culture (GM01722) is also available

characteristic: description

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: AR

text: Androgen receptor

text: GM01721 female affected Androgen receptor sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: maternal grandmother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND04175 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 23 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;fibroblast culture from uterine tissue also available (GM01724);patient has focal endometrial hyperplasia

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM01723 female unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: PD

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04178

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: PD

text: Parkinson disease

text: ND04177 male affected PD sample


text: Coriell

text: live

text: Generic

text: Basal cell nevus syndrome

text: 58 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM01726A Lymph;clinically affected

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: BCNS

text: Basal cell nevus syndrome

text: GM01725 female affected Basal cell nevus syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04177

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND04178 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Basal cell nevus syndrome

text: 58 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01725 Fibroblast;HLA type A28;Aw30;B5;Bw16;clinically affected

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: BCNS

text: Basal cell nevus syndrome

text: GM01726 female affected Basal cell nevus syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected mother is ND04197;unaffected maternal grandmother is ND04198 and unaffected maternal grandfather is ND04199

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND04196 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 45 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mentally retarded;aberrations involving chromosomes 1;10;15;& 17 were also found in all cells examined

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM01727 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 36 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected mother of ND04196;affected daughter of ND04198 and ND04199

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND04197 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 5 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mental retardation & multiple anomalies;1 normal X & the translocated X are late replicating

text: proband

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

characteristic: tag

text: GM01730 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND04205 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 3 yrs

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: XPC

text: GM01736 female affected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: PD

text: 84 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04214

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND04213 male affected PD sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Campomelic dysplasia

text: 9 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Gonad biopsy;phenotypically female;46;XY with random chromosome loss;normal fibroblast alkaline phosphatase activity

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Campomelic dysplasia

text: GM01737 female affected Campomelic dysplasia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 76 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04213

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND04214 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Mucopolysaccharidosis type iiia

text: 6 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Same patient as GM01094;deficient heparan sulfate sulfatase;normal N-acetylalpha-glucosaminidase

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Mucopolysaccharidosis type iiia

text: GM01739 female affected Mucopolysaccharidosis type iiia sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04223 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: AT

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Moroccan;a deceased sister had AT;same patient as GM01939;a C>T mutation at nucleotide 103 in exon 5 results in a truncation at codon 35 Arg35ter;(R35X)

text: MOROCCAN

characteristic: ethnicity

text: proband

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM01740 male affected AT sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04235

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND04233 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 24 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01743 Amniotic;clinically affected;by sequencing the donor subject was found to be heterozygous for a whole gene deletion of the GALT gene and both exons 8 and 9 repeatedly failed PCR amplification suggesting a deletion of these exons on both alleles

text: proband

text: GALT

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: GALT

text: Galactosemia

text: GM01741 male affected Galactose-1-phosphate uridylyltransferase sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND04235 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Galactosemia

text: 24 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: 46;XY;see GM01741 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Galactosemia

characteristic: tag

text: GM01743 male affected Galactosemia sample


text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04237

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND04236 female affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 13 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient branched-chain keto-acid decarboxylase activity;positive for cross-reactive material for BCKDH complex subunits E1A;E2;and E3

text: Homo sapiens

text: Caucasian

text: Female

text: GM01744 female affected Maple syrup urine disease (msud) type ia sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04236

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control panel for late onset parkinsons: unaffected individuals

text: ND04237 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Arab;46;XY in leukocytes with quadri and tri radials and breaks;in fibroblasts;16% of cells show chromosome breaks;increased chromosome aberrations following treatment with mitomycin-C

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: GM01746 male affected Fanconi anemia complementation group undetermined sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND04261;unaffected father is ND04262

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND04260 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 2 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Three first cousins have the same partial trisomy 14;growth retardation;facial dysplasia;and developmental delay;MYH6 and MYH7 gene probes reveal 3 copies of cardiac alpha- and beta-myosin heavy chain genes

text: proband

text: 47;XY;+der(14)(14pter->14q12::9p21->9pter)mat.arr 9p24.3p21.3(206123-24496137)x3;14q11.2q12(19502640-29729826)x3;47;XY;+der(14)(14pter>14q21:: 9p24>9pter)mat

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM01750 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND04260;spouse is ND04262

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND04261 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Four sisters have same translocation

characteristic: family id

text: mother

text: 46;XX;t(9;14)(9qter>9p24::14q21> 14qter;14pter>14q21::9p24>9pter)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM01751 female unaffected Translocated chromosome sample

characteristic: title


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 father of ND04260;spouse is ND04261

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND04262 male 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: Mucolipidosis iiia

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Similarly affected sister;deficient fibroblast B-hexosaminidase;B-galactosidase;B-glucuronidase;A-fucosidase;A-galactosidase;A-mannosidase;and GLcNAc phosphotransferase activity;complementation group A;GlcNAc-Phosphotransferase activity = 0.8% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject is a compound heterozygote: one allele has an A>T transversion in exon 5 of the GNPTAB gene 733A>T resulting in mRNA with a 4-bp deletion causing a frameshift at the 3'-end of the exon 5 sequence D190fsX211 and a second allele has a 2-bp deletion in exon 19 of the GNPTAB gene 3665_3666delTC resulting in a frameshift and truncation of the protein in the beta subunit L1168fsX1172 .

text: GNPTAB

characteristic: gene

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GNPTAB

text: N-acetylglucosamine-1-phosphotransferase alpha/beta subunits

text: Mucolipidosis iiia

text: GM01759 male affected Mucolipidosis iiia sample


text: Coriell

text: live

text: Generic

text: 68 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND04293

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND04291 male unaffected Neurologically normal caucasian control panel sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 29 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Formerly GM00249;recurrent myoglobinuria;passage 4 at CCR;donor subject is homozygous for a C>T transition at nucleotide 439 of the CPT2 gene (439C>T) resulting in a ser-to-leu substitution at codon 113 Ser113Leu (S113L)

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Carnitine palmitoyltransferase ii

text: GM01763 male affected Carnitine palmitoyltransferase ii deficiency, late-onset sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: PD

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04291

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Late onset parkinsons dna panel: affected individuals

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND04293 female affected PD sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Familial hypercholesterolemia

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Formerly GM01449;elevated serum cholesterol

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: FHC

text: Familial hypercholesterolemia

text: GM01766 female affected Familial hypercholesterolemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04303

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND04302 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: Gaucher disease type iii

text: 25 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Adult Gaucher;formerly GM01021;low acid B-glucosidase;donor subject is homozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 Asn370Ser (N370S) codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

text: JEWISH

characteristic: ethnicity

text: proband

text: GBA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: GBA

text: Glucosidase acid beta

text: Gaucher disease type iii

text: GM01769 male affected Gaucher disease type iii sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: PD

text: 63 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND04302

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND04303 female affected PD sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Krabbe disease

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient lactosylceramide beta-galactosidase

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Krabbe disease

characteristic: tag

text: GM01773 male affected Krabbe disease sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: maternal uncle

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Intracranial aneurysm - unruptured

text: ND04306 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 7 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01775A Lymphoid;maternal grandfather was also affected;leukoplakia tongue;dysplastic fingernails and toenails;increased chromosome instability in BrdU treated fibroblasts;hypersensitive to mitomycin-C induced cell killing;donor subject is hemizygous for an in frame 3 bp deletion of nucleotides 201_203 of the DKC1 gene (201_203delCTT) resulting in the deletion of leucine at position 37 Leu37del

text: proband

text: LEU37 DEL

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Dyskeratosis congenita, x-linked

text: DKC

text: Dyskerin

text: GM01774 male affected DKC1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04309 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM01774A Fib;HLA type Aw30;(Bw40);B13;B5;maternal grandfather was also affected;leukoplakia tongue;dysplastic finger and toenails;fibro show increased BrdU induced chromosome instability and hypersens to mitomycin-C induced cell killing;donor subject is hemizygous for an in frame 3 bp deletion of nucleotides 201_203 of the DKC1 gene (201_203delCTT) resulting in the deletion of leucine at position 37 Leu37del

text: proband

characteristic: gene

text: LEU37 DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Dyskeratosis congenita, x-linked

text: DKC

text: Dyskerin

text: GM01775 male affected DKC1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND04332 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: GM01777 female affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 69 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04343.

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: PD

text: Parkinson disease

text: ND04342 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 16 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Obligate heterozygote;mother is affected

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Glycogen storage disease ii

text: GM01778 female unaffected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected spouse is ND04342.

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND04343 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type iiia

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Mucopolysaccharidosis type iiia

characteristic: tag

text: GM01780 male affected Mucopolysaccharidosis type iiia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 3 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND4354

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND04353 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Cystathionine gamma-lyase

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: B6 responsive;46;XX;4% of cells show random chromosome loss;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 356 in exon 2 of the CTH gene (356C>T) resulting in the substitution of isoleucine for threonine at codon 67 Thr67Ile (T67I);and the second allele has a C>G transversion at nucleotide 874 in exon 7 (874C>G) resulting in the substitution of glutamic acid for glutamine at codon 240 Gln240Glu (Q240E)

text: proband

text: CTH

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CTH

text: Cystathioninuria

text: Cystathionine gamma-lyase

text: GM01781 female affected Cystathionine gamma-lyase sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 31 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND04353

characteristic: description

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND04354 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: 30 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected father & son

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Dyskeratosis congenita, x-linked

text: DKC

text: GM01786 female unaffected Dyskeratosis congenita, x-linked sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: maternal great aunt

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: ND04365 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: 78 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Possible carrier;affected son and greatgrandson

text: maternal great grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Dyskeratosis congenita, x-linked

text: DKC

text: GM01787 female unaffected Dyskeratosis congenita, x-linked sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04367 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Ehlers-danlos syndrome type ii

text: 51 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Ehlers-danlos syndrome type ii

text: GM01788 male affected Ehlers-danlos syndrome type ii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04368 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 12 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Scoliosis;slightly blue sclerae;negative family history;normal fibroblast alkaline phosphatase activity

text: Homo sapiens

text: Caucasian

text: Female

text: Non-lethal

text: GM01789 female affected Osteogenesis imperfecta: genetics uncertain sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND04369 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Ehlers-danlos syndrome type vi

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Parents not affected;kyphoscoliosis;recurrent joint dislocation;hyperextensible skin and joints;decreased collagen hydroxylysine content;similarly affected sib;30% of normal lysyl hydroxylase activity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Ehlers-danlos syndrome type vi

text: GM01790 female affected Ehlers-danlos syndrome type vi sample


text: Coriell

text: live

text: Generic

text: PD

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND04376

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Late onset parkinsons dna panel: affected individuals

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND04375 male affected PD sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Ehlers-danlos syndrome type vi

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Kyphoscoliosis;recurrent joint dislocation;hyperextensible skin and joints;decreased collagen hydroxylysine content;30% of normal collagen lysyl hydroxylase activity

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Ehlers-danlos syndrome type vi

characteristic: tag

text: GM01791 female affected Ehlers-danlos syndrome type vi sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04375

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND04376 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Schizophrenia

text: 26 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01793 Lymphoid;episodes of agitation;delusions of persecution;and fear of assassination;father also affected

text: JEWISH/SCANDANAVIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Schizophrenia

text: SCZD

text: GM01792 male affected Schizophrenia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 4 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND04388 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Schizophrenia

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01792 Fibroblast;HLA type Aw24;B18;B13;episodes of agitation;delusions of persecution;fear of assassination;father and sister are also affected;46;XY;1qh+ in lymphoblast culture

characteristic: description

text: JEWISH/SCANDANAVIAN

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Schizophrenia

text: SCZD

text: GM01793 male affected Schizophrenia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 65 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND04392 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Wolfram syndrome

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM01610 Fibroblast;HLA type Aw32;B12/Aw32;Bw40;on Insulin;onset at age 11;optic atrophy;2 affected sibs;46;XX

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Wolfram syndrome

text: GM01795 female affected Wolfram syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm unruptured: caucasian

characteristic: tag

text: Intracranial aneurysm - unruptured

text: ND04393 male affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 16 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;HLA type Aw32;Bw40/Aw32;B12;3 affected sibs

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Wolfram syndrome

text: GM01796 male unaffected Wolfram syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: PD

text: 85 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04398

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND04397 male affected PD sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;HLA type A9;Bw35/Aw32;Bw40;see GM01701 Fibroblast;Neutral Alpha-glucosidase C phenotype=1;3 affected children

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Wolfram syndrome

text: GM01797 male unaffected Wolfram syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04397

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND04398 female unaffected Control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Wolfram syndrome

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HLA type Aw32;B12/A9;Bw35;not on Insulin;onset at age 16;optic atrophy;2 affected sibs

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Wolfram syndrome

text: GM01799 female affected Wolfram syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Dementia with lewy bodies

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04404

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Dementia with lewy bodies

characteristic: tag

text: ND04403 female affected Dementia with lewy bodies sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 7 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic twin of GM01801;HLA type A2;Bw15/A9;Bw35;3 affected sibs

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Wolfram syndrome

text: GM01800 female unaffected Wolfram syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 73 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04403

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND04404 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic twin of GM01800;HLA type A2;Bw15/A9;Bw35;3 affected sibs

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Wolfram syndrome

text: GM01801 female unaffected Wolfram syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease

text: ND04406 female affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Non-diabetic;HLA type Aw32;B12/A9;Bw35;3 affected sibs

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Wolfram syndrome

text: GM01803 female unaffected Wolfram syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND04408 female affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A1;A9;B18(B13);formerly GM01073;46;XX;1 chromosome #16 is qh+;donor subject is heterozygous for a sequence variation (polymorphism) in exon 19 of the CFTR gene: the guanine-to-thymine substitution at nucleotide 3617 (3617G>T) results in a replacement of arginine at codon 1162 (CGA) by leucine (CTA) Arg1162Leu (R1162L) .

text: proband

text: CFTR

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM01805 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 53 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND04432 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Formerly GM01074;HLA type A1;A2;Bw17;B18;(Bw22);46;XY;14% of cells show random loss of 1 chromosome and 6% show random loss of 2 chromosomes

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Apparently healthy non-fetal tissue

text: GM01806 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Intracranial aneurysm unruptured: caucasian

characteristic: tag

text: Intracranial aneurysm - unruptured

text: ND04433 male affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A1;A2;Bw35;B13;clinically unaffected

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Phenylketonuria

text: Cystathioninuria

text: GM01807 male unaffected Cystathioninuria sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: PD

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04441

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND04440 male affected PD sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: HLA type A2;A10;B12;B27;proband not in Repository;clinically unaffected

text: Homo sapiens

text: Caucasian

text: Male

text: Homocystinuria

text: GM01808 male unaffected Homocystinuria sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04440

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND04441 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Abetalipoproteinemia

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A1;A10;B7;B13;clinically affected;formerly GM01451

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Abetalipoproteinemia

text: ABL

text: GM01810 male affected Abetalipoproteinemia sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND04444 male affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Translocated chromosome

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Menstrual dysfunction;t(X;15) present in 100% of cells at passage 6;it was not found in peripheral blood leukocytes

text: 46;X;t(X;15)(Xqter>Xp11::15q13>15qter;15pter>15q13::Xp11>Xpter);t(1;21) (1pter>1q12::21q22>21qter;21pter>21q22::1q12>1qter)pat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM01813 female affected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Asian

text: Male

text: Parkinson disease

text: ND04450 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Formerly GM01072;same patient as GM01814 only 7 years older;46;XX;2% of cells show random chromosome loss

text: proband

text: 46;XX;46;XX;t(9;14)(9qter>9p13::14q32>14qter;14pter>14q32::9p13>9pter) 49 /46;XX 1;46;XX/46;XX;t(9;14)(p13;q32)

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM01814 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND04451 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Formerly GM01075;HLA type A2;A9;B7;B13;(B12);46;XY;12% of cells show random chromosome loss

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Apparently healthy non-fetal tissue

text: GM01815 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND04471 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Ataxia-telangiectasia

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

text: Caucasian

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM01829 male affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND04472 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Schizophrenia

text: 27 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01836 Lymphoid;hospitalized;drug abuse;father also affected;schizo-affective disorder

text: JEWISH

characteristic: ethnicity

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Schizophrenia

text: SCZD

text: GM01835 female affected Schizophrenia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND04492 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Schizophrenia

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01835 Fibroblast;HLA type A28;Bw16/A3;Bw35;hospitalized;drug abuse;father also affected;schizo-affective disorder

characteristic: description

text: JEWISH

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Schizophrenia

text: SCZD

text: GM01836 female affected Schizophrenia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: ND04494 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Translocated chromosome

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;hemihypertrophy left side;developmental delay;fibroblast culture from right arm skin biopsy

text: BRAZILIAN

text: proband

text: 45;XX;der(7)(13qter->13q12.1::7p22->7qter);-13.arr 13q11q12.11(17943627-21831429)x1;45;XX;der(7)t(7;13)(7qter>7p22::13q12.1>13qter);-13

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

characteristic: tag

text: GM01840 female affected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 1 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND04496 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 35 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Possible red cell acid phosphatase variant

text: maternal first cousin

text: 46;XY;der(10)(10pter->10q26::2p24->2pter)mat.arr 1q42.2(229779179-229879929)x3;2p25.3p24.3(2771-15568862)x3;10q26.2q26.3(129737086-135309142)x1;46;XY;der(10)(10pter>10q26::2p23>2pter)mat

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM01848 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: PD

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04498

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Late onset parkinsons dna panel: affected individuals

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND04497 male affected PD sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Possible red cell acid phosphatase variant;slow growing culture

text: maternal first cousin

text: 46;XY;der(10)(10pter->10q26::2p24->2pter)mat.arr 2p25.3p24.3(2771-15568862)x3;8p23.1(7259578-7825360)x1;10q26.2q26.3(129737086-135309142)x1;46;XY;der(10)(10pter>10q26::2p23>2pter)mat

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM01849 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04497

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND04498 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: About 20% of normal beta-glucuronidase activity;clinically unaffected father of GM00121A;one allele has the W627C mutation in the GUSB gene: a G>T transversion (Trp627> Cys) in exon 12

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: father

text: GUSB

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: Mucopolysaccharidosis type vii

text: GM01850 male unaffected Mucopolysaccharidosis type vii sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected spouse is ND07288.

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND04515 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 64 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected mother of a child with XP;group B;and features of Cockayne syndrome (GM02252);see also GM01855 (lymphoblastoid);donor subject is heterozygous for a C>A transversion in the splice acceptor sequence of the last intron of the ERCC3 gene.

characteristic: description

characteristic: family id

text: mother

text: FS

text: SPLICE ACCEPTOR C>A

text: Homo sapiens

text: Caucasian

text: Female

text: Xeroderma pigmentosum, complementation group b

text: XPB

text: Excision-repair: complementing defective in chinese hamster 3

text: GM01854 female unaffected XPB sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: PD

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04519.

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: PD

text: Parkinson disease

text: ND04518 male affected PD sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 64 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of a child with XP;group B;and features of Cockayne syndrome (GM02252);HLA type: Aw32;(A1);B12;B27;see GM01854 (fibroblast);donor subject is heterozygous for a C>A transversion in the splice acceptor sequence of the last intron of the ERCC3 gene.

text: mother

characteristic: gene

text: FS

text: SPLICE ACCEPTOR C>A

text: Homo sapiens

text: Caucasian

text: Female

text: XPB

text: GM01855 female unaffected XPB sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected spouse is ND04518.

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND04519 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Cockayne syndrome type a

text: 13 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Fibroblasts have markedly decreased post UV light colony-forming ability;same x-ray sensitivity as normal cells;see GM01857A Lymphoid;patient is CS3BE;complementation group A

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: CSA

text: Cockayne syndrome type a

text: GM01856 male affected Cockayne syndrome type a sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND04521;unaffected father is ND04522

characteristic: description

text: proband

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

text: ND04520 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Cockayne syndrome type a

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type: A9;A11;B7;Bw15;see GM01856B Fibroblast;fibroblasts show markedly decreased post UV light colony-forming ability and same x-ray sensitivity as normal cells;patient is CS3BE

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: CSA

text: Cockayne syndrome type a

text: GM01857 male affected Cockayne syndrome type a sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND04520;unaffected spouse is ND04522

text: mother

text: Homo sapiens

text: African American

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND04521 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Neurofibromatosis type i

text: 41 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Neurofibroma biopsy-fibroblast culture;see GM01861A Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Neurofibromatosis type i

text: GM01858 male affected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND04520;unaffected spouse is ND04521

text: father

text: Homo sapiens

text: African American

text: Male

text: ND04522 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND04524

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND04523 female affected Epilepsy sample

characteristic: title