text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND07246 female affected Subarachnoid hemorrhage sample


status: PUBLIC

tag: attribute

characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 19 FW

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Spontaneous abortus;amnion fibroblast culture

characteristic: description

text: 48;XY;+16;+21;48;XY;+16;+21 45 /47;XY;+21 5

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Asiatic Indian

characteristic: race

text: Aneuploid chromosome number - trisomy

characteristic: tag

text: GM04435 unknown unaffected Aneuploid chromosome number - trisomy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND07248

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND07247 female affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Schwartz-jampel syndrome

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Short stature;joint limitations;myotonia;muscle hypertrophy;typical facial features;only affected family member

text: Homo sapiens

text: Caucasian

text: Female

text: Schwartz-jampel syndrome

text: SJS

text: GM04465 female affected Schwartz-jampel syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND07247

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND07248 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Huntington disease

text: 57 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Code 8;clinically affected;onset at age 45 yrs;affected spouse is GM04478;10 affected children & 2 with probable HD;neuro exam 3/82 shows difficulty in ambulation with frequent falls;see GM04477B Lymphoid

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM04476 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 12 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND07251.

characteristic: description

text: proband

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

text: ND07250 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Huntington disease

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 8;clinically affected;onset at age 45 years;affected spouse is GM04479A;10 affected children and 2 with probable HD;neuro exam 3/82 shows difficulty in ambulation with frequent falls;see GM04476 Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Huntington disease

text: HD

text: GM04477 male affected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND07250.

text: mother

text: Homo sapiens

text: African American

text: Female

characteristic: tag

text: ND07251 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: Huntington disease

text: 51 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 9;clinically affected;age of onset 37 years;affected sibs are GM04887 and GM04877;10 affected children and 2 with probable HD;see GM04479A Lymphoid

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Huntington disease

text: HD

text: GM04478 female affected Huntington disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 24 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father is ND07253.

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND07252 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Huntington disease

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 9;clinically affected;onset at age 37 yrs;affected sibs are GM04876A & GM04886A;affected spouse is GM04477B;10 affected children & 2 with probable HD;see GM04478 Fibro. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: family id

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04479 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 63 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected daughter is ND07252.

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND07253 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Code 123;probable HD;last examined on 11/22/80;5 affected sibs & 3 with probable HD;affected parents are GM04478 & GM04476

characteristic: description

text: maternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM04482 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND07260 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficiency of serum and muscle carnitine;acute episodes of encephalopathy associated with hepatic dysfunction and progressive muscle weakness;deficient medium chain Acyl CoA dehydrogenase activity;homozygous for 985A>G {Lys304Glu (K304E)} mutation of ACADM (MCAD)

text: ACADM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ACADM

text: Acyl-coa dehydrogenase, medium-chain

text: GM04488 female affected ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 6 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

text: ND07261 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP25BE;freckling;photophobia;eye lesions;see GM04490 Lymphoid;donor subject is homozygous for a 2 bp deletion in intron 11 of the XPC gene (IVS11-1_IVS11-2delAG)and a 2 bp insertion between -6 and -7 (IVS11-6_IVS11-7insCC) leading to three alternately spliced XPC mRNA isoforms: one with exon 12 skipped;one with the deletion of 44 bp at the 5' end of exon 12;and one with retention of intron 11

text: proband

text: XPC

text: Homo sapiens

text: Black

text: Female

text: XPC

text: GM04489 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND07265 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP25BE;freckling;photophobia;eye lesions;see GM04489 Fibroblast;donor subject is homozygous for a 2 bp deletion in intron 11 of the XPC gene (IVS11-1_IVS11-2delAG)and a 2 bp insertion between -6 and -7 (IVS11-6_IVS11-7insCC) leading to three alternately spliced XPC mRNA isoforms: one with exon 12 skipped;one with the deletion of 44 bp at the 5' end of exon 12;and one with retention of intron 11

characteristic: description

text: proband

text: XPC

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: XPC

text: GM04490 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

text: 85 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected nephew is ND06751;unaffected nephew is ND07189;unaffected niece is ND07191;unaffected nephew is ND07267;unaffected niece is ND07612;unaffected nephew is ND07332;affected niece/nephew is ND07611;unaffected niece/nephew is ND07268;unaffecte

text: aunt

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND07266 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XPH310BE;clinically normal;affected child is GM04490;donor subject is heterozygous for a 2 bp deletion in intron 11 of the XPC gene (IVS11-1_IVS11-2delAG)and a 2 bp insertion between -6 and -7 (IVS11-6_IVS11-7insCC) leading to three alternately spliced XPC mRNA isoforms: one with exon 12 skipped;one with the deletion of 44 bp at the 5' end of exon 12;and one with retention of intron 11

text: mother

text: XPC

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

text: XPC

text: GM04491 female unaffected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected brother is ND07189;affected brother is ND06751;affected maternal cousin is ND07611;unaffected sister is ND07191;unaffected aunt is ND07266;unaffected cousin is ND07268;unaffected cousin is ND07269;unaffected brother is ND07332;unaffecte

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND07267 male 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: Adrenoleukodystrophy

text: 6 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: High proportion of fatty acids with a chain length of 26 found in fibroblasts;autopsy pathological findings in both the adrenal and central nervous system were those of ALD

text: Homo sapiens

text: Caucasian

text: Male

text: Adrenoleukodystrophy

text: ALD

text: GM04496 male affected Adrenoleukodystrophy sample


text: University of Trieste

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: Mytilus galloprovincialis

text: Mytilus galloprovincialis digestive gland transcriptome. Time point 1 (24 hours). AL1T non-toxigenic A. minutum strain fed mussels


text: Coriell

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected cousin is ND06751;unaffected cousin is ND07189;unaffected cousin is ND07191;unaffected cousin is ND07267;unaffected cousin is ND07332;unaffected cousin is ND07612;unaffected cousin is ND08616;unaffected cousin is ND08092;affected cousin i

characteristic: description

characteristic: family id

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND07268 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 15 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Spontaneous abortus

text: 46;XX;t(1;3)(1qter>1p36::3q13.3>3qter;3pter>3q13.3::1p36>1pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM04500 female unaffected Translocated chromosome sample

characteristic: title


T4 NT

text: University of Trieste

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Mytilus galloprovincialis

text: Mytilus galloprovincialis digestive gland transcriptome. Time point 4 (5 days). AL1T non-toxigenic A. minutum strain fed mussels


T1 T

text: University of Trieste

characteristic: INSDC first public

text: live

text: Generic

text: Mytilus galloprovincialis

text: Mytilus galloprovincialis digestive gland transcriptome. Time point 1 (24 hours). AL9T toxigenic A. minutum strain fed mussels


T4 T

text: University of Trieste

characteristic: INSDC secondary accession

text: live

text: Generic

text: Mytilus galloprovincialis

text: Mytilus galloprovincialis digestive gland transcriptome. Time point 4 (5 days). AL9T toxigenic A. minutum strain fed mussels


control 1

text: University of Trieste

text: live

text: Generic

characteristic: SRA accession

text: Mytilus galloprovincialis

text: Mytilus galloprovincialis digestive gland transcriptome. Control mussels.


control 2

text: University of Trieste

text: live

text: Generic

text: Mytilus galloprovincialis


text: Coriell

text: live

text: Generic

text: 53 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Affected cousin is ND06751;unaffected cousin is ND07267;unaffected cousin is ND07189;unaffected cousin is ND07612;unaffected cousin is ND07332;unaffected cousin is ND07191;unaffected aunt is ND07266;affected maternal first cousin is ND07611;unaffe

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND07269 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Line HF20;monozygotic twin of GM04502A;46;XY

characteristic: description

characteristic: family id

text: proband

text: 46;XY;46;XY.arr 2q23.1(148922880-149041426)x3

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM04501 male unaffected Apparently healthy individuals with normal psychiatric evaluations sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND07273;unaffected father is ND07274.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND07272 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Line HF21;monozygotic twin of GM04501A;46;XY;10% of the cells examined show random chromosome loss

text: twin brother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM04502 male unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

text: live

text: Generic

text: 27 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected son is ND07272;unaffected spouse is ND07274.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND07273 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Line HF22;monozygotic twin of GM04504A;has had some minor depression;46;XX

characteristic: description

text: proband

text: 46;XX;46;XX.arr Xq28(148003968-148640579)x3;8p23.1(7237777-7825360)x1

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM04503 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND07272;unaffected spouse is ND07273.

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND07274 male 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: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Line HF23;monozygotic twin of GM04503B;46;XX;13% of the cells examined show random chromosome loss

text: twin sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM04504 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: same subject as ND29543

text: proband

characteristic: gene

characteristic: mutation

text: 1-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND07278 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 20 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Line HF24;monozygotic twin of GM04506A;46;XX;6% of cells examined show random chromosome loss

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM04505 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

text: live

text: Generic

text: 24 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND07279 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Line HF25;monozygotic twin of GM04505A;46;XX/46;XX;t(13;14)(13pter>13q34:: 14q21>14qter;14pter>14q21::13q34>13qter);66%/30%;4% of the cells examined show random chromosome loss

characteristic: description

characteristic: family id

text: twin sister

text: 46;XX;t(13;14)(13pter>13q34:: 14q21>14qter;14pter>14q21::13q34>13qter) 15 /46;XX 35

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM04506 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND07280 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Fanconi anemia, complementation group c

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;complementation group C;pancytopenia;digital anomalies;increased chromosome breakage;mitomycin C induced chromosome aberrations and cell killing;normal DNA ligase I and II activity;donor subject is homozygous for a splice site mutation IVS4+4A>T in the FANCC gene in which a single base change in the fourth intronic base changes the sequence from a consensus A to T;resulting in deletion of the 111-bp exon 4.

text: proband

text: FANCC

characteristic: gene

text: A>T

characteristic: mutation

text: IVS

text: Homo sapiens

text: Caucasian

text: Female

text: Fanconi anemia, complementation group c

text: Translocated chromosome

text: FANCC

text: GM04510 female affected Fanconi anemia, complementation group c sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: PD

text: 76 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND04515.

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: ND07288 male affected PD sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Spontaneous abortion;24% of cells show 47;XX;+2

characteristic: description

text: 47;XX;+del(2)(qter>p23:) 38 /47;XX;+2 12

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Aneuploid chromosome number - trisomy

text: GM04513 female unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: DOMINICAN REPUBLICAN

characteristic: ethnicity

characteristic: family id

text: daughter

text: Homo sapiens

text: Female

characteristic: tag

text: ND07294 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Frontal bossing;telecanthus;intermittant exotropia;broad nasal bridge;high arched palate;presacral dimple;hyperconvex nails

text: 45;X;dic(X;22)(Xpter>Xq22::22p12>22qter) 19 /45;X 31 .ish dic(X;22)(D22Z1+;DXZ1+);45;X;dic(X;22)(Xpter>Xq22::22p12>22qter) 48 /45;X 2

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Dicentric chromosome

text: GM04514 female unaffected Dicentric chromosome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 24 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: DOMINICAN REPUBLICAN

text: daughter

text: Homo sapiens

text: Female

text: ND07295 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Sideroblastic anemia - 206000 or 301300

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Pancytopenia;pancreatic insufficiency;dystonia;and neurological symptoms;see GM04516 Fibroblast

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Sideroblastic anemia - 206000 or 301300

text: GM04515 female affected Sideroblastic anemia - 206000 or 301300 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND07316 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Sideroblastic anemia - 206000 or 301300

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pancytopenia;pancreatic insufficiency;dystonia;& neurological symptoms;see GM04515 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Sideroblastic anemia - 206000 or 301300

text: GM04516 female affected Sideroblastic anemia - 206000 or 301300 sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 21 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND07320 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Krabbe disease

text: 8 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;seizures and spasticity;deficient galactocerebrosidase activity in WBC;fibroblasts show a deficiency of taurocholate activated galactosylceramidase;donor subject is homozygous for a 30 kb deletion beginning near the middle of intron 10 in the GALC gene resulting in the loss of the sequences encoded by exons 11-17 plus an additional 9 kb

text: GALC

characteristic: gene

text: 30-KB DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Krabbe disease

text: GM04517 male affected Krabbe disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 1 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND07328 male affected Epilepsy sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Mannosidase, alpha, class 2b member 1

text: 2 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Severe growth failure;hypotonia;psychomotor retardation;mild hepatosplenomegaly;x-ray findings compatible with Hurler's syndrome;8% of control fibroblast and 1% of control leukocyte acid-alpha-mannosidase activity;the donor subject is homozygous for a C>G transversion at nucleotide 1067 in exon 8 of the MAN2B1 gene (1067C>G) resulting in the substitution of arginine for proline at codon 356 Pro356Arg (P356R)

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Mannosidosis alpha b, lysosomal

text: Mannosidase, alpha, class 2b member 1

text: GM04518 female affected Mannosidase, alpha, class 2b member 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister is ND07613;unaffected mother is ND07330.

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND07329 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: TS

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;seizures since age 4;mild mental retardation;adenoma sebaceum;hypopigmented macules on right flank and right distal thigh;cerebral calcifications on EMI scan;donor subject has a large deletion of exons 1 through 14 in the TSC2 gene resulting in no transcription of the normal TSC2 gene due to the deleted exon 1;polymorphisms in TSC1 include 965T>C;1335A>G;and 1440C>T;polymorphisms in the TSC2 gene include 4272C>T;5202T>C;and 5259+72C>T;same donor as GM04520 fibroblast.

text: proband

characteristic: gene

text: arr 8p23.1(7254762-7869452)x1;16p13.3(1972043-2041750)x1

characteristic: karyotype

text: DEL EX1-14

text: Homo sapiens

text: Caucasian

text: Female

text: Tuberous sclerosis

characteristic: tag

text: Tsc2 gene

text: TS

text: GM04519 female affected TS sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 52 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter is ND07613;affected daughter is ND07329.

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND07330 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: TS

text: 15 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;seizures since age 4;mild mental retardation;adenoma sebaceum;hypopigmented macules on right flank and right distal thigh;cerebral calcifications on EMI scan;donor subject has a large deletion of exons 1 through 14 in the TSC2 gene resulting in no transcription of the normal TSC2 gene due to the deleted exon 1;polymorphisms in TSC1 include 965T>C;1335A>G;and 1440C>T;polymorphisms in the TSC2 gene include 4272C>T;5202T>C;and 5259+72C>T;same donor as GM04519 lymphocyte.

characteristic: description

text: proband

text: DEL EX1-14

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Tuberous sclerosis

text: Tsc2 gene

text: TS

text: GM04520 female affected TS sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected brother is ND06751;unaffected brother is ND07189;unaffected sister is ND07191;unaffected brother is ND07267;unaffected brother is ND08616;unaffected sister is ND07612.

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: ND07332 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Reduced at risk;father had HD;sister is GM04203

text: first cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

characteristic: tag

text: HD

text: GM04534 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 32 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND07407 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Phosphoglycerate kinase 1

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Japanese;PGK Tokyo;16% of normal PGK activity

text: JAPANESE

characteristic: ethnicity

characteristic: karyotype

text: Homo sapiens

text: Asian

characteristic: race

text: Male

text: Phosphoglycerate kinase 1

text: GM04535 male affected Phosphoglycerate kinase 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND07415 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 15 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: 46;XX;inv(2)(pter>p21::q21>p21::q21> qter);inv(9)(pter>p11::q13>p11::q13> qter);balanced;Black/Caucasian;phenotypically normal

characteristic: description

text: BLACK/CAUCASIAN

text: 46;XX;inv(2)(pter>p21::q14.2>p21::q14.2> qter);inv(9)(pter>p11::q13>p11::q13> qter);46;XX;inv(2)(pter>p21::q14.2>p21::q14.2> qter);inv(9)(pter>p11::q13>p11::q13>qter)

text: Homo sapiens

characteristic: organism

text: More than one race

text: Female

characteristic: sex

text: Inverted chromosome

text: GM04536 female unaffected Inverted chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND07416 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: CF

text: 18 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Chronic cough;abnormal sweat electrolytes;absence of stool proteolytic enzymes;peribronchial thickening & sinus opacification;staph aureus in the sputum;acute onset Insulin requiring diabetes;homozygous for F508 deletion mutation PHE508DEL

text: sister

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM04539 female affected CF sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 56 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND07417 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: CF

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Abnormal sweat electrolytes;minimal cough & congestion;mild pulmonary symptomatology;little or no stool proteolytic enzyme activity;similarly affected sib;homozygous for 3 bp F508 deletion mutation PHE508DEL;see GM04541 Fibroblast

characteristic: description

text: proband

text: CFTR

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: CF

text: Cystic fibrosis

text: CFTR

text: GM04540 male affected CF sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

characteristic: tag

text: ND07466 male affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: CF

text: 10 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Abnormal sweat electrolytes;minimal cough and congestion;mild pulmonary symptomatology;little or no stool proteolytic enzyme activity;see GM04540A Lymphoid;lymphoblast DNA is homozygous for 3 bp F508 deletion mutation PHE508DEL

text: proband

text: CFTR

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM04541 male affected CF sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND07478.

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND07477 male affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 39 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Two affected children;heterozygous for F508 deletion mutation PHE508DEL

characteristic: description

text: mother

text: CFTR

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM04543 female unaffected CF sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND07477.

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: ND07478 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 20 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal sweat electrolytes;possible heterozygote;2 affected siblings

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: CF

characteristic: tag

text: Cystic fibrosis

text: GM04545 male unaffected Cystic fibrosis sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 64 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND07499 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 43 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Two affected children: heterozygous for F508 deletion mutation PHE508DEL

text: father

text: CFTR

characteristic: gene

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM04547 male unaffected CF sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 87 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND07500 male affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Retinitis pigmentosa 1

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosis made at age 8;decreasing night vision;narrowing of retinal vessels;several pigment spicules;affected family members include subject's father;three paternal uncles;one paternal aunt and paternal grandfather

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM04562 male affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND07504 male affected Subarachnoid hemorrhage sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Dystrophia myotonica 1

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;first reported episode of weakness occurred at age 8;which was diagnosed as dermatomyositis;distal weakness;myopathic facies;long;thin face;clinical and electrical myotonia;occasional hand cramping;marked lid lag;distal atrophy of hands and feet;reduced muscle mass;difficulty swallowing;marked myotonic response with percussion of the tongue;absent deep tendon reflexes in ankles and knees and markedly depressed reflexes in biceps and triceps;receding hairline;EMG exam revealed Evidence of a diffuse myopathic process which actually is maximal distally. There is also ample evidence of myotonic insertional potentials present.;donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 700 in the DMPK gene;affected sister is GM05164

characteristic: family id

text: proband

text: DMPK

text: (CTG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Dystrophia myotonica 1

text: GM04567 female affected Dystrophia myotonica 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND07505 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Muscular dystrophy: becker type

text: 38 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected with Becker muscular dystrophy;presented at age 22 with muscle weakness;initially carried diagnosis of Limb-Girdle muscular dystrophy;calf hypertrophy since childhood;tightness around legs noted as young child;difficulty walking up stairs noted at age 13-14;muscle weakness and atrophy of the biceps noted at age 22;by age 33 there was lordosis;grade III weakness of shoulder girdle;absent bicep jerks and modified Gower's maneuver;by age 37 there were absent bicep and tricep reflexes;normal brachioradialis;decreased patellar and ankle jerk on left but normal on the right;grade II weakness of the biceps and triceps;normal grip and forearm strength;grade II to III weakness of hamstrings with associated weakness of the adductors of the quadriceps;normal strength in the calves;ankles and feet;broadbased and labored gait due to weakness;twin brother (possibly identical) also affected;CPK of 1;718 at age 33;transaminase of 73 at age 33;muscle biopsy showed alteration of a long standing chronic myopathy and could be consistent with Limb-Girdle muscular dystrophy or Beckers muscular dystrophy;electromyogram showed primary myopathic changes;dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis;DNA sequencing showed no detectable mutations

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: BMD

text: Muscular dystrophy: becker type

text: GM04569 male affected Muscular dystrophy: becker type sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND07520 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND07527 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Dystrophia myotonica 1

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed in early 30's;about one year prior to diagnosis aching in the arms was noted;followed by loss of strength and diminished grip;muscle atrophy;including interossei and lubricals in both upper extremities and muscles of the pectoralis group;poor manipulation with fine objects using hands;poor central vision in right eye with atrophic right disc;myotonia;baldness and loss of body hair;distal weakness;pectus excavatum;marked weakness to dorsiflexion of both ankles as well as to toe extension;sloppy gait;weakness to small muscles of hands;myotonic response of the tongue and both thenar eminences;deep tendon reflexes are diminshed;nominal facial diaparesis;weakness to lid closure with little lid lag noted;affected son is GM04647;affected father is GM05142;affected sister is GM05281

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Dystrophia myotonica 1

text: GM04573 male affected Dystrophia myotonica 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 23 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: ND07528 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);mother had HD;son of GM04205;1st cousin once removed to proband

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

characteristic: tag

text: HD

text: GM04584 male unaffected Huntington disease 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

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND07532 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject is heterozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;affected child is GM04589;same donor as GM04586 fibroblast.

text: mother

text: IKBKAP

characteristic: gene

characteristic: mutation

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

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

text: Kinase-complex associated protein

text: IKBKAP

text: GM04585 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: American Indian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND07533 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject is heterozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;affected child is GM04589;same donor as GM04585 lymphocyte.

characteristic: description

characteristic: family id

text: mother

text: IKBKAP

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

text: Kinase-complex associated protein

text: IKBKAP

text: GM04586 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 71 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND01054;unaffected spouse is ND01056;unaffected son is ND07577;affected son is ND07578.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Epilepsy

text: ND07576 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;donor subject is heterozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;affected child is GM04589.

text: father

text: IKBKAP

text: T>C

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Kinase-complex associated protein

text: IKBKAP

text: GM04587 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father is ND01056;unaffected mother is ND07576;affected brother is ND01054;affected brother is ND07578.

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND07577 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;developmental delay;poor sucking and no tears noticed at birth;cyclic emesis;syncope;no sweating;decreased sensation to pain;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;mother is GM04586;father is GM04587.

text: proband

text: IKBKAP

characteristic: gene

characteristic: mutation

text: T>C

text: Homo sapiens

text: Caucasian

text: Male

text: Kinase-complex associated protein

text: IKBKAP

text: GM04589 male affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND07576;unaffected father is ND01056;affected brother is ND01054;unaffected brother is ND07577.

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

text: ND07578 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Aneuploid chromosome number - trisomy

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinical features of Down syndrome

characteristic: description

text: 47;XX;+21;47;XX;+21.arr 21q11.2q21.3(13587544-46921373)x3;47;XX;+21 32 /46;XX 18

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Trisomy 21

text: Aneuploid chromosome number - trisomy

text: GM04592 female affected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 12 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND07580;unaffected father is ND07581.

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND07579 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 37 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;affected daughter is GM04595;affected spouse is GM04594.

text: brother-in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Charcot-marie-tooth peroneal muscular atrophy, x-linked

text: Gap junction protein, beta-1, 32-kd

text: GM04593 male unaffected GJB1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND07579;unaffected spouse is ND07581.

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: ND07580 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hypertrophic variety of CMT disease;diagnosis confirmed by nerve conductivity tests;donor subject has one allele with a G>A transition of the GJB1 (Cx32) gene resulting in a substitution of methionine for valine at codon 139 Val139Met (V139M);affected brother is GM04598;affected mother is GM04597;affected daughter is GM04595;affected great aunt is GM04596;unaffected spouse is GM04593.

characteristic: description

text: sister

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Gap junction protein, beta-1, 32-kd

text: GM04594 female affected GJB1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 33 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected daughter is ND07579;unaffected spouse is ND07580.

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND07581 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;hypertrophic variety of CMT disease;diagnosis confirmed by nerve conductivity tests;donor subject has one allele with a G>A transition of the GJB1 (Cx32) gene resulting in a substitution of methionine for valine at codon 139 Val139Met (V139M);affected uncle is GM04598;affected mother is GM04594;affected grandmother is GM04597;affected distant aunt is GM04596;unaffected father is GM04593.

text: niece

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Gap junction protein, beta-1, 32-kd

text: GM04595 female affected GJB1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND07586 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 83 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hypertrophic variety of CMT disease;diagnosis confirmed by nerve conductivity tests;donor subject has one allele with a G>A transition of the GJB1 (Cx32) gene resulting in a substitution of methionine for valine at codon 139 Val139Met (V139M);affected family members include GM04597;GM04594;GM04595;GM04596.

characteristic: description

text: great aunt

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Gap junction protein, beta-1, 32-kd

text: GM04596 female affected GJB1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 52 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND07595 male affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 56 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hypertrophic variety of CMT disease;diagnosis confirmed by nerve conductivity tests;donor subject has one allele with a G>A transition of the GJB1 (Cx32) gene resulting in a substitution of methionine for valine at codon 139 Val139Met (V139M);affected son is GM04598;affected daughter is GM04594;affected great niece is GM04595;affected aunt is GM04596.

characteristic: family id

text: mother

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Gap junction protein, beta-1, 32-kd

text: GM04597 female affected GJB1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected father is ND07600.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND07599 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hypertrophic variety of CMT disease;diagnosis confirmed by nerve conductivity tests;donor subject is hemizygous for a G>A transition of the GJB1 (Cx32) gene resulting in a substitution of methionine for valine at codon 139 Val139Met (V139M);affected mother is GM04597;affected sister is GM04594;affected niece is GM04595;affected great aunt is GM04596.

text: proband

text: 46;XY;9qh+/47;XY;+7;9qh+;47;XY;+7;9qh+ 10 /46;XY;9qh+ 40

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Gap junction protein, beta-1, 32-kd

text: GM04598 male affected GJB1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND07599.

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND07600 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Dystrophia myotonica 1

text: 4 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;delivered at term and weighed 5 pounds 13 ounces;placed on respirator at 5 days of age;hypotonia in infancy;problems with articulation of language;diagnosed at age 4;long;thin face with weakness of the facial musculature;myotonic facies;incomplete eyelid closure;high-arched palate;thin extremitites with relatively reduced muscle bulk;mildly reduced strength in neck flexion and distal upper extremity musculature;myotonia evident with hand grip and after thenar percussion;distal atrophy of arms and legs;affected mother is GM04608;affected sister is GM04602;maternal grandfather is GM06076;myotonia on EMG

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Dystrophia myotonica 1

text: GM04601 female affected Dystrophia myotonica 1 sample

type: derived from


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND07610 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Dystrophia myotonica 1

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;diagnosed shortly after birith;delivered prematurely (breech) and weighed 5 pounds 9 ounces;vigorous resuscitation required and on respirator for approximately three months after birth;hypotonia at birth;scoliosis developed at approximately 4 months of age and required body brace;by age 2 there was delay in communication skills;inability to sit without support;delayed fine motor adaptive skills;difficulty maintaining head control;delayed milestones;high-arched palate;thin;long face with moderate facial weakness;inability to completely close eyelids;thin;elongated head;hypertelorism;little facial movement;bilateral nonobligatory tonic neck responses;reduced muscle tone and reduced muscle bulk in all extremities;clinical and electrical myotonia;donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1600 (minor species at 2400) in the DMPK gene;affected mother is GM04608;affected sister is GM04601;maternal grandfather is GM06076;see GM06077 lymphocyte

text: daughter

text: DMPK

characteristic: gene

text: (CTG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Dystrophia myotonica 1

text: GM04602 female affected Dystrophia myotonica 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected cousin is ND06751;unaffected cousin is ND07267;unaffected cousin is ND07189;unaffected cousin is ND07612;unaffected cousin is ND07332;unaffected cousin is ND07191;unaffected aunt is ND07266;unaffected cousin is ND07269;unaffected cousin i

text: maternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND07611 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;father of two affected daughters (GM04601;GM04602);affected spouse is GM04608;see GM04604 lymphocyte

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Dystrophia myotonica 1

text: GM04603 male unaffected Dystrophia myotonica 1 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 61 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected brother is ND06751;unaffected brother is ND07189;unaffected brother is ND08616;unaffected brother is ND07267;unaffected brother is ND07332;unaffected sister is ND07191.

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND07612 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;father of two affected daughters (GM04601;GM06077);affected spouse is GM04608;see GM04603 fibroblast

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Dystrophia myotonica 1

text: GM04604 male unaffected Dystrophia myotonica 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected sister is ND07329;unaffected mother is ND07330.

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND07613 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Dystrophia myotonica 1

text: 29 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 28;prior to diagnosis;stiffness in hands was noted;tires and falls asleep easily;myotonic facies;mild bilateral ptosis;facial weakness;incomplete eye closure;reduced smile;myotonia of grip and to percussion of the thenar eminence;mild weakness and reduced muscle bulk in hands;distal atrophy of arms and legs;myotonia on EMG;parents both had normal EMG examinations;mother of 2 affected daughters (GM04601;GM04602);father is GM06076

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Dystrophia myotonica 1

text: GM04608 female affected Dystrophia myotonica 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND07631 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hypoplastic lungs;Potter facies;bilateral clubbed feet;bilateral undescended testes;genitourinary dysplasia;kyphoscoliosis

characteristic: description

text: proband

text: 46;XY;t(2;11)(2qter>2p11.2::11p13> 11pter;11qter>11p13::2p11.2>2pter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM04613 male unaffected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother-in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND07632 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Aneuploid chromosome number - trisomy

text: 2 DA

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinical features of Down syndrome

text: Homo sapiens

text: Caucasian

text: Female

text: Trisomy 21

text: Aneuploid chromosome number - trisomy

text: GM04614 female affected Aneuploid chromosome number - trisomy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Female

text: ND07633 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Aneuploid chromosome number - trisomy

text: 3 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinical features of Down syndrome

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Trisomy 21

characteristic: tag

text: Aneuploid chromosome number - trisomy

text: GM04616 female affected Aneuploid chromosome number - trisomy sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Female

characteristic: sex

text: ND07634 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Aneuploid chromosome number - trisomy

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Puerto Rican;clinical features of Down syndrome

characteristic: description

text: PUERTO RICAN

characteristic: ethnicity

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Trisomy 21

text: Aneuploid chromosome number - trisomy

text: GM04617 female affected Aneuploid chromosome number - trisomy sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 44 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND07638 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 30 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son with the unbalanced translocation is tall;has mental retardation with unusual features;and some of the features of Klinefelter's syndrome;the normal X is late replicating;see GM10005 Lymphoid

characteristic: family id

text: mother

text: 46;X;t(X;1)(Xqter>Xp22.1 or p22.13::1q24 or q25.1>1qter;1pter>1q24 or q25.1::Xp22.1 or p22.13>Xpter)

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

text: GM04618 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND07643 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Muscular dystrophy: duchenne type

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with Duchenne muscular dystrophy;diagnosed at age 7;calf hypertrophy;progressive muscular weakness;wheelchair bound sometime between ages 9 and 15;by age 9 there was toe walking;absent deep tendon reflexes;lordosis;contractures of the ankles;shoulder girdle strength grade IV;extreme weakness around pelvic girdle;suggestion of myopathic facies;by age 15 there was kyphoscoliosis;difficulty in raising arms up to face;difficulty maintaining head control;son of GM04621;CPK of 10;510;dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis;DNA sequencing showed this donor has a C>T transition at nucleotide 8713 in exon 59 of the DMD gene (c.8713C>T) resulting in a stop at codon 2905 Arg2905Ter (R2905X)

characteristic: description

text: proband

text: DMD

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Muscular dystrophy: duchenne type

text: DMD

text: GM04619 male affected Muscular dystrophy: duchenne type sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: nephew

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Subarachnoid hemorrhage

text: ND07646 male affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 32 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;mother of an affected child (GM04619)

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Muscular dystrophy: duchenne type

text: DMD

text: GM04621 female unaffected Muscular dystrophy: duchenne type sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Female

characteristic: tag

text: ND07658 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 38 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Jewish;mother of an affected child;proband not in Repository

characteristic: description

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: GM04623 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Female

characteristic: sex

text: ND07659 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: 39 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Father of an affected child;proband not in Repository

text: parent

text: Homo sapiens

text: American Indian

text: Male

text: GM04624 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: ND07668 female affected Subarachnoid hemorrhage sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 21 FW

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Abortus;clinically normal phenotype

text: 47;XXX;47;XXX.arr Xp22.33q28(108464-154887040)X3;15q11.2(18522237-21038975)x1;47;XXX 49 /46;XX 1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Aneuploid chromosome number - trisomy

text: GM04626 female unaffected Aneuploid chromosome number - trisomy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 6 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND07675;unaffected father is ND07676.

text: EGYPTIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND07674 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 20 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Mother has inv(3)(p25q21);46;XY;rec(3);dup q;inv(3)(qter>p25::q21>qter);9qh+;unbalanced;brother is GM00366 Fibroblast

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Recombinant chromosome

characteristic: tag

text: GM04627 male unaffected Recombinant chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND07674;unaffected spouse is ND07676.

characteristic: description

text: EGYPTIAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND07675 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 58 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected child is GM02343.

text: ASHKENAZI

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM04632 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND07690 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 53 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;affected child is GM02343;same donor as GM04635.

text: ASHKENAZI

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM04634 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND07707 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected child is GM02343;same donor as GM04634.

text: ASHKENAZI

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM04635 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND07714 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 32 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected child is GM04638.

characteristic: description

text: ASHKENAZI

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM04637 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND07715 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Kinase-complex associated protein

text: 7 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;recurrent pneumonias;chronically hoarse voice due to gastroesophageal reflux;cyanotic lips and nailbeds;chronic lung disease including bronchiectasis and emphesyma;emotional lability;feeding difficulties including not chewing on back teeth and misdirecting liquids;poor oral coordination with tongue chewing and biting;bruxism;vomiting crises;chronic dehydration;alacrima;corneal ulcerations;absent corneal reflexes bilaterally;right exotropia;left thoracic kyphoscoliosis;exostosis of left elbow;at least 3 fractures;absent deep tendon reflexes;absent abdominal reflexes;azotemia;syncopal episodes;poor muscle development;mother is GM04637;donor subject is heterozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;donor subject is also heterozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 Asn370Ser (N370S) codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

text: proband

text: GBA;IKBKAP

characteristic: gene

characteristic: mutation

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

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

text: Neuropathy, hereditary sensory and autonomic type iii

text: GBA

text: Kinase-complex associated protein

text: Glucosidase acid beta

text: IKBKAP

text: GM04638 female affected Kinase-complex associated protein sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND07716 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected with familial dysautonomia;clinically affected with Parkinson's disease;which was diagnosed at age 58;tremors and rigidity involving extremities;decreased vibratory sense in lower extremities;slight diminution of pin sensation;postural abnormalities;shuffling gait;donor subject tested negative for the 2507+6T>C mutation in the IKBKAP gene (IVS20+6T>C);paternal aunt of GM04589;same donor as GM04643 fibroblast.

text: paternal aunt

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Kinase-complex associated protein

text: Parkinson disease

text: IKBKAP

text: GM04642 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND07717 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 64 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected with familial dysautonomia;clinically affected with Parkinson's disease;which was diagnosed at age 58;tremors and rigidity involving extremities;decreased vibratory sense in lower extremities;slight diminution of pin sensation;postural abnormalities;shuffling gait;donor subject tested negative for the 2507+6T>C mutation in the IKBKAP gene (IVS20+6T>C);paternal aunt of GM04589;same donor as GM04642 lymphocyte.

characteristic: description

text: paternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Kinase-complex associated protein

text: Parkinson disease

text: IKBKAP

text: GM04643 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND07719 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: Dystrophia myotonica 1

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;diagnosed at age 22;bilateral cataracts;frontal baldness;bilateral ptosis;limitation of full lid closure;myotonic ocular response;facial diparesis;diminished phonation amplitude;weakness of intrinsic muscles of the face;myotonic lingual response;loss of muscle bulk to the hands;depressed deep tendon reflexes;myotonia evident with hand grip and after thenar percussion;weakness to the extensors and flexors of the wrist and to the intrinsic muscles of the hands;donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1000 (minor species at ~700-800) in the DMPK gene;affected father is GM04573;affected grandfather is GM05142;affected paternal aunt is GM05281;see GM04648 lymphocyte

characteristic: family id

text: son

text: DMPK

characteristic: gene

text: (CTG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Dystrophia myotonica 1

text: GM04647 male affected Dystrophia myotonica 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND07720 male affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Dystrophia myotonica 1

text: 23 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 22;bilateral cataracts;frontal baldness;bilateral ptosis;limitation of full lid closure;myotonic ocular response;facial diparesis;diminished phonation amplitude;weakness of intrinsic muscles of the face;myotonic lingual response;loss of muscle bulk to the hands;depressed deep tendon reflexes;myotonia evident with hand grip and after thenar percussion;weakness to the extensors and flexors of the wrist and to the intrinsic muscles of the hands;donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1000 (minor species at ~700-800) in the DMPK gene;affected father is GM04573;affected grandfather is GM05142;affected paternal aunt is GM05281;see GM04647 fibroblast

text: son

text: DMPK

text: (CTG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: Dystrophia myotonica 1

text: GM04648 male affected Dystrophia myotonica 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 69 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected son is ND07735;unaffected spouse is ND07733;unaffected daughter-in-law is ND07734;unaffected nephew is ND07722;unaffected nephew is ND07724;unaffected niece is ND07725;unaffected niece is ND07726;unaffected brother is ND07727;unaffected sister is ND07729;unaffected niece is ND07731;unaffected niece is ND07732;unaffected granddaughter is ND07736;unaffected grandson is ND07737;unaffected sister-in-law is ND07730;unaffected brother-in-law is ND07728;unaffected brother-in-law is ND07723.

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND07721 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Kinase-complex associated protein

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;diagnosed within the first year of life;born at 36 weeks and small for gestational age (BW=1.69 kg);hypotonia and poor suck in neonatal period;questionable seizure in neonatal period;absent fungiform papillae on tongue;absent deep tendon reflexes;skin blotching;hyperhidrosis;alacrima;sluggish corneal reflexes;no flare response to histamine test;good linear growth;pneumonia;air swallowing;developmental delay;tongue thrusting;corneal ulcers;acrocyanosis;weak;hoarse cry;searching nystagmus when drinking;high palate;small umbilical hernia;at 25 months;BUN normal for age (5);poor coordination;constipation;vomits mucous and bile after meals;poor head control;extraneous movements and alternating low and high tone periods;no breath holding;hospitalized for diarrhea on at least one occasion;father is GM04664;mother is GM04665;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;donor subject is also heterozygous for a silent polymorphism in the ASPA gene: 693C>T Tyr231Tyr (Y231Y)

characteristic: description

characteristic: family id

text: proband

text: ASPA;IKBKAP

text: T>C

text: Homo sapiens

text: Caucasian

text: Female

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

text: Kinase-complex associated protein

text: Aspartoacylase

text: IKBKAP

text: ASPA

text: GM04663 female affected Kinase-complex associated protein sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected aunt is ND07721;affected cousin is ND07735;unaffected uncle is ND07733;unaffected cousin-in-law is ND07734;unaffected first cousin once removed is ND07736;unaffected first cousin once removed is ND07737;unaffected uncle is ND07723;unaffected cousin is ND07724;unaffected cousin is ND07725;unaffected cousin is ND07726;unaffected uncle is ND07728;unaffected uncle is ND07727;unaffected aunt is ND07729;unaffected aunt is ND07730;unaffected cousin is ND07731;unaffected cousin

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: ND07722 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected child is GM04663.

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM04664 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected nephew is ND07735;unaffected niece is ND07734;unaffected brother-in-law is ND07733;unaffected sister-in-law is ND07721;unaffected nephew is ND07722;unaffected nephew is ND07724;unaffected niece is ND07725;unaffected niece is ND07726;unaffected niece is ND07732;unaffected niece is ND07731;unaffected brother is ND07728;unaffected sister ND07730;unaffected brother-in-law is ND07727;unaffected sister-in-law is ND07729;unaffected great niece is ND07736;unaffected great nephew is ND07737.

text: uncle-in-law

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND07723 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM04665 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected aunt is ND07721;affected cousin is ND07735;unaffected uncle is ND07733;unaffected cousin-in-law is ND07734;unaffected first cousin once removed is ND07736;unaffected first cousin once removed is ND07737;unaffected uncle is ND07723;unaffected cousin is ND07722;unaffected cousin is ND07725;unaffected cousin is ND07726;unaffected uncle is ND07728;unaffected uncle is ND07727;unaffected aunt is ND07729;unaffected aunt is ND07730;unaffected cousin is ND07731;unaffected cousin is ND07732.

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: ND07724 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Gilles de la tourette syndrome

text: 41 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;multiple motor and focal tics;questionable family history.

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GTS

text: Gilles de la tourette syndrome

text: GM04666 female affected Gilles de la tourette syndrome sample

characteristic: title