text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 2 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

text: ND09480 male affected Epilepsy sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Huntington disease

tag: attribute

text: 43 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 963;clinically affected;onset at age 33 yrs;affected sibs are GM06566 & GM06447A;see GM05427Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: description

characteristic: family id

text: maternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Huntington disease

characteristic: tag

text: HD

text: GM05428 female affected Huntington disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND09482 male affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 18 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 616;at risk;last examined on 3/15/82;affected father is GM04776B;affected brother is GM04738A;see GM05439Z 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 second cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM05440 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND09483 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 615;unaffected;last examined on 3/15/82;affected father is GM04776B;affected brother is GM04738A;see GM05441Z 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 second cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM05442 female unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 65 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND09488

text: IRISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Als panel upper-limb onset definite and probable als

text: Amyotrophic lateral sclerosis 1

text: ND09487 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 533;unaffected;last examined on 3/15/82;affected spouse is GM05614A;1st cousin once removed to proband;see GM05447Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: description

characteristic: family id

text: paternal first cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Huntington disease

text: HD

text: GM05448 male unaffected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09487

text: FRENCH CANADIAN

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09488 male unaffected Control sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 537;at risk;last examined on 3/15/82;1st cousin once removed to proband;see GM05451Z 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: paternal first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM05452 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Als panel caucasian from the us

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09498 female affected Als panel caucasian from the us sample


text: Coriell

text: live

text: Generic

text: 38 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 543;at risk;last examined on 3/82;1st cousin once removed to proband;see GM05453Z 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: paternal first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM05454 female unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND09499 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1010;unaffected;last examined on 3/82;affected sibs are GM05428B;06566;& 06447A;see GM05485Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: description

characteristic: family id

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05486 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Asian

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: ND09505 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1195;clinically affected;onset at age 30 yrs;diag update 7/92;father had HD;see GM05495Z 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 second cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Huntington disease

text: HD

text: GM05496 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND09509 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 617;unaffected;last examined on 3/15/82;affected father is GM04776A;affected brother is GM04738A. 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 second cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM05506 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND09510 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: 17 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP12BE;multiple skin cancers;acute sun sensitivity;nervous system involvement with progressive neurological degeneration;see GM02250 (lymphoblast) and GM04429 (SV40 transformed fibroblast);< 2% of normal UV induced unscheduled DNA synthesis;the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 with results in a missplice;the second allele carries a G-to-T transversion in intron 3 which abolishes the canonical 3-prime splice site and results in a missplice.

text: proband

text: XPA

characteristic: gene

characteristic: mutation

text: G>T transversion in intron 3

text: Homo sapiens

text: Caucasian

text: Female

text: XPA

text: GM05509 female affected Xeroderma pigmentosum, complementation group a sample


text: Coriell

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND09511 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 44 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;mother of GM05509 and GM05566;the donor subject is heterozygous for a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 of the XPA gene with results in a missplice.

characteristic: description

text: mother

text: XPA

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: XPA

text: GM05510 female unaffected Xeroderma pigmentosum, complementation group a sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND09516 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;see GM05510 Fibro

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: XPA

text: GM05511 female unaffected Xeroderma pigmentosum, complementation group a sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 59 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND09528 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Aniridia-Wilms tumor;ment retardation;failure to thrive;sporadic;no fam hist for Aniridia-Wilms;50% of RBC catalase act;nor RBC LDH-A act;nor fibro Hb epsilon DNA genes;46;XX;-9;+der(9)(9qter> 9p22::11p13>11pter);del(11)(qter>p11.1:)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Wilms tumor 1

text: Chromosome deletion

text: GM05518 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: nephew

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND09534 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Bilateral vertical talus;epicanthal folds

characteristic: description

text: proband

text: 46;XY;t(4;11)(4pter>4q25::11p13>11pter;11qter>11p13::4q25>4qter)mat

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Translocated chromosome

characteristic: tag

text: GM05519 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

text: ND09543 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Sialic acid storage disease

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Yugoslavian;gargoyle-like features;hepatosplenomegaly;severe progressive mental and neurologic involvement;similarly affected brother;markedly elevated free sialic acid in urine and cultured skin fibro;normal acid hydrolases

text: YUGOSLAVIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: SIASD

text: Sialic acid storage disease

text: GM05520 female affected Sialic acid storage disease sample


text: Coriell

text: live

text: Generic

text: 48 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: African American

text: Female

text: ND09544 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Yugoslavian;2 affected children;normal sialic acid level in fibroblasts;46;XX;clinically unaffected mother of GM05520

text: YUGOSLAVIAN

characteristic: family id

text: mother

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: SIASD

text: Sialic acid storage disease

text: GM05521 female unaffected Sialic acid storage disease sample


text: Coriell

text: live

text: Generic

text: Als panel bulbar onset all definite als

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: Als panel bulbar onset all definite als

text: Amyotrophic lateral sclerosis 1

text: ND09548 female affected Als panel bulbar onset all definite als sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 39 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Yugoslavian;clinically normal;two affected children;normal sialic acid level in fibroblasts

characteristic: description

text: YUGOSLAVIAN

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: SIASD

text: Sialic acid storage disease

text: GM05522 male unaffected Sialic acid storage disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND09556

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel: caucasians from north america lower-limb onset

text: Als panel lower-limb onset definite and probable als

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09551 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Fragile site 10q25

text: 28 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 46;XX;fra(10)(q25) in 39% of cells with FudR & BrdU;see GM05425B Fibroblast;short stature;late menarche;irregular menses;small uterus;small ovaries;aortic insufficiency;myopia;& cataracts

text: proband

text: 46;XX;fra(10)(q25) 16% of cells show fra(10) with FudR;46;XX;fra(10)(q25) 39% of cells show fra(10) with BrdU & FudR;46;XX;fra(10)(q25) fra(10)(q25) in 16% of cells with FudR

text: Homo sapiens

text: Caucasian

text: Female

text: Marker chromosome

text: Fragile site 10q25

text: GM05523 female affected Fragile site 10q25 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND09557

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND09553 female affected Als panel upper-limb onset definite and probable sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1566;clinically affected;onset at age 25 yrs;diag update on 7/04;affected mother is GM04886A. 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: GM05524 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09551

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09556 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Huntington disease

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1564;clinically affected;onset at age 30 yrs;diag update 7/04;affected mother is GM04886A;see GM05527Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05526 male affected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09553

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND09557 male unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1567;unaffected;last examined on 3/19/82;affected mother is GM04886A. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05528 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND09564 female affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 32 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1543;clinically affected;onset at age 36 yrs;diag update 7/04;affected mother is GM04886A. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05530 male affected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND09565 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 1561;clinically affected;onset at age 27 yrs;last examined on 3/19/82;affected mother is GM04886A;see GM05535Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: family id

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05534 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Als panel caucasian from the us

text: Als panel upper-limb onset definite and probable als

text: Amyotrophic lateral sclerosis 1

text: ND09576 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Huntington disease

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 179;clinically affected;onset at age 32 yrs;diag update 7/04;affected parents are GM04479A & GM04477B;9 affected sibs & 2 with probable HD;see GM06541Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Huntington disease

characteristic: tag

text: HD

text: GM05536 female affected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09577 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 29 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 166;clinically affected;onset at age 21;affected parents are GM04479A and 04477B;9 affected sibs and 2 with probable HD;unaffected spouse is GM06728Z Fibro;neurological exam 3/82 shows rigidity with reinforcement;see GM04849 Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM05542 female affected Huntington disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND09579

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Ndpt116 - als panel: caucasians from north america upper-limb onset

text: Als panel upper-limb onset probable and possible als

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09578 female affected ALS1 sample


text: Coriell

text: live

text: Generic

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1562;at risk;last examined on 3/82;affected mother is GM04886A. 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: GM05544 male unaffected Huntington disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND09579 male unaffected Control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 7;unaffected;last examined on 3/82;1 sib had HD;paternal uncle of GM05608A;see GM05547Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Huntington disease

characteristic: tag

text: HD

text: GM05546 male unaffected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND09588 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Huntington disease

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1568;clinically affected;onset at age 27 yrs;diag update 7/04;affected mother is GM04886A. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05552 male affected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND09593 male affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Huntington disease

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 396;clinically affected;onset at age 38 yrs;affected sibs are GM06348 & GM06443;see GM05555Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM05554 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 81 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09597 male affected ALS1 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 555;unaffected;last examined on 3/82;1 affected sib;sis is GM06437;son is GM04864A;46;XX;see GM05559 Fib. 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

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Huntington disease

text: HD

text: GM05558 female unaffected Huntington disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09598 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Huntington disease

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 619;clinically affected;onset at age 33 yrs;affected sib is GM04776B;1st cousin once removed to proband;neuro exam 3/82 shows rigidity with reinforcement. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05560 male affected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Als panel caucasian from the us

text: 50 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND09602

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09601 female affected Als panel caucasian from the us sample


text: Coriell

text: live

text: Generic

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Breakpoint may be q14;severely malformed fetus;anencephaly;imperforate anus;urethral meatus;severe talipes;syndactyly;horseshoe cataracts;bilateral retinal dysplasia;and type IV polycystic kidneys

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Ring chromosome

text: GM05563 male unaffected Ring chromosome sample


text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND09602 male unaffected Control panel for young onset parkinsons: unaffected individuals sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 15 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Both parents have normal karyotypes;46;XX;t(3;9)(3pter>3q29::9p22>9pter;9qter> 9p22::3q29>3qter);balanced

text: 46;XX;t(3;9)(3pter>3q29::9p22>9pter;9qter>9p22::3q29>3qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM05564 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND09604

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND09603 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hispanic;skin biopsy (inguinal);past history of asthma;46;XY

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM05565 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09603

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND09604 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 20 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;see GM05567 (lymphoblastoid);the donor subject has no known mutations in the XPA gene

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: XPA

text: GM05566 male unaffected Xeroderma pigmentosum, complementation group a sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND09607 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;see GM05566 (fibroblast);the donor subject has no known mutations in the XPA gene

characteristic: description

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: XPA

text: GM05567 male unaffected Xeroderma pigmentosum, complementation group a sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09608 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 47 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;see GM05569 (lymphoblastoid);father of GM05509 and GM05566;the donor subject is heterozygous for a G-to-T transversion in intron 3 of the XPA gene which abolishes the canonical 3-prime splice site and results in a missplice.

text: father

text: XPA

text: G>T transversion in intron 3

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: XPA

text: GM05568 male unaffected Xeroderma pigmentosum, complementation group a sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 65 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND09615 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;see GM05568 (fibroblast);father of GM05509 and GM05566;the donor subject is heterozygous for a G-to-T transversion in intron 3 of the XPA gene which abolishes the canonical 3-prime splice site and results in a missplice.

characteristic: family id

text: father

text: XPA

characteristic: gene

text: G>T transversion in intron 3

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: XPA

text: GM05569 male unaffected Xeroderma pigmentosum, complementation group a sample


text: Coriell

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND09616 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 73;unaffected;last examined on 3/26/82;affected sib is GM04766A;see GM05571Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM05572 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND09641 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 47 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 482;unaffected;last examined on 3/82;mother had HD;1st cousin once removed to proband;see GM05579Z 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.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

characteristic: tag

text: HD

text: GM05580 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: half-brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND09652 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 450;unaffected;last examined on 3/82;mother is GM04772A;father had HD;affected brother is GM04284B;see GM05583Z 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 first cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Huntington disease

text: HD

text: GM05584 male unaffected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND09653 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 483;unaffected;last examined on 3/82;stepfather & 1st cousin once removed to proband;brother is GM05580A;see GM05589Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05590 male unaffected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND09654 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 527;unaffected spouse of GM05608A;affected son is GM05628A;see GM05593Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: description

text: in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM05594 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 23 MO

text: B-Lymphocyte

text: NINDS Repository

text: JAMAICAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: African American

text: Male

characteristic: sex

text: Epilepsy

text: ND09661 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 76 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 419;unaffected spouse of HD patient;affected children are GM04798A;GM05622A;& GM05614A;see GM05599Z 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.

text: in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05600 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: second cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial rupture-status undefined

characteristic: tag

text: ND09664 male affected Intracranial rupture-status undefined sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 72;unaffected;last examined on 3/26/82;affected sib is GM04766A;see GM05603Z 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: GM05604 male unaffected Huntington disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND09665 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Huntington disease

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 404;clinically affected;onset at age 44 yrs;last examined on 3/26/82;affected sibs are GM06348;06443;& 05554B;see GM05605Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Huntington disease

text: HD

text: GM05606 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 66 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND09676

text: proband

text: Homo sapiens

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND09675 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 54 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Code 526;clinically affected;onset at age 45;both parents were affected;affected son is GM05628A;neuro exam 3/82 shows prominent chorea;moderate dystonia;and some dementia;see GM05607Z 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.

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM05608 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND09675

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND09676 male unaffected Neurologically normal caucasian control panel sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Huntington disease

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 344;clinically affected;onset at age 40 yrs;affected brother is GM05678A;see GM05609Z 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.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM05610 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: SOD-1 mutation not present;ND09681 is unaffected spouse

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND09680 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 534;clinically affected;onset at age 36 yrs;affected sibs are GM04798A;05622B;& 05740A;see GM05613Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM05614 female affected Huntington disease sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09680

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND09681 male unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Huntington disease

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 424;clinically affected;onset at age 38 yrs;affected sibs are GM04798A;05614A;& 05740A;see GM05621Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05622 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND09687

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND09685 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Huntington disease

text: 28 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 389;clinically affected;onset at age 24 yrs;affected father is GM06348;see GM05625Z 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.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05626 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 73 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09687 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 859;clinically affected;onset at age 47 yrs;affected mother is GM05608A;see GM05627Z 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: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05628 male affected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: IRISH;FRENCH CANADIAN;ENGLISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel: caucasians from north america lower-limb onset

characteristic: tag

text: Als panel lower-limb onset definite and probable als

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09711 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 614;unaffected;last examined on 3/82;affected father is GM04776B;affected brother is GM04738A;see GM05637Z 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 second cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Huntington disease

text: HD

text: GM05638 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Als panel caucasian from the us

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND09716

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09715 female affected Als panel caucasian from the us sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1249;unaffected;last examined on 3/26/82;affected sibs are GM05622B;GM04798A;& GM05614A;see GM05639Z 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: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Huntington disease

text: HD

text: GM05640 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND09716 male unaffected Control panel for young onset parkinsons: unaffected individuals sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 388;unaffected spouse of GM06348;affected son is GM05626A;see GM05641Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: family id

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

characteristic: tag

text: Apparently healthy non-fetal tissue

text: HD

text: GM05642 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND09717 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type II bipolar illness;minor depression

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM05651 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel bulbar onset all definite als

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09718 female affected ALS1 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Gangliosidosis generalized gm1 type i

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Venezuelan;developmental delay onset at 2-3 months;hepatosplenomegaly;cherry red spot;blindness;respiratory difficulty;giant inclusions in lymphocytes

characteristic: description

text: VENEZUELAN

characteristic: ethnicity

text: first cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Gangliosidosis generalized gm1 type i

text: GM05652 male affected Gangliosidosis generalized gm1 type i sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND09721 male affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Gangliosidosis generalized gm1 type i

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Venezuelan;consanguineous parents;developmental delay onset at 2-3 months;hepatosplenomegaly;cherry red spot;blindness;respiratory difficulty;giant inclusions in lymphocytes

text: VENEZUELAN

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Gangliosidosis generalized gm1 type i

characteristic: tag

text: GM05653 female affected Gangliosidosis generalized gm1 type i sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND09737

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND09736 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;son is GM05519 Fibroblast

text: mother

text: 46;XX;t(4;11)(4pter>4q25::11p13>11pter;11qter>11p13::4q25>4qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: Apparently healthy non-fetal tissue

text: GM05654 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09736

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09737 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 1 MO

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies and dysmorphic features

text: proband

text: 46;XY;der(21)(21qter> 21p11.2::6q22.2>6qter)mat

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM05655 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected sibling is ND09742

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND09741 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: mother

text: 46;XX;t(6;21)(6pter>6q22.2::21p11.2> 21pter;21qter>21p11.2::6q22.2>6qter);46;XX;t(6;21)(q22.2;p11.2) 15 /46;XX;t(6;21)(q22.2;p11.2);t(7;19)(p11.2;p13.1) 4 /46;XX;add(1)(p32);add(6)(p12);t(6;21)(q22.1;p11.2);add(8)(q24);add(9)(p13);-11;add(12)(p11.2);add(18)(q11.2);+mar 4 /46;XX;del(1)(q41);t(6;21)(q22.1;p11.2);add(7)(q22);add(15)(p11.1) 2;46;XX;t(6;21)(q22.2;p11.2) 16 /46;XX;t(6;21)(q22.2;p11.2);t(7;19)(p11.2;p13.1) 4 /46;XX;add(1)(p32);add(6)(p12);t(6;21)(q22.2;p11.2);add(8)(q24.1);add(9)(p13);-11;+mar 3 /46;XX;t(3;4)(p11.2;q35);t(6;21)(q22.2;p11.2) 2;46;XX;t(6;21)(q22.2;p11.2) 19 /46;XX;t(6;21)(q22.2;p11.2);t(7;19)(p11.2;p13.1) 4 /46;X;add(X)(p22.1)t(6;21)(q22.2;p11.2);add(7)(p13);add(11)(p11.2) 2

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM05656 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: Sibling of ND09741;epilepsy proband

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND09742 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: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (umbilical);46;XY

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM05658 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 45 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel

text: Greater than 7 years survival

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09783 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 1 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Skin biopsy (chest);46;XY

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM05659 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND09784 male unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Huntington disease

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 378;clinically affected;onset at age 52 yrs;diag update on 7/04;affected sibs are GM05682A & GM05668A;see GM05661Z 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

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM05660 female affected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND09787 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Huntington disease

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 379;clinically affected;onset at age 36 yrs;affected sister is GM05682A;see GM05669Z 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: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05668 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09789 female unaffected Control panel for late onset parkinsons: unaffected individuals sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Huntington disease

text: 58 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 356;clinically affected;onset at age 48 yrs;affected sister is GM05610A;see GM05679Z 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.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05678 male affected Huntington disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 66 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND09793 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 374;clinically affected;onset at age 39 yrs;father had HD;mother is GM05684B;affected brother is GM05668A;see GM05683Z 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: GM05682 female affected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND09802

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND09803 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 373;unaffected spouse of HD patient;affected children are GM05682A & GM05668A;see GM05685Z 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: in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM05684 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND09806

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Als panel upper-limb onset definite and probable als

text: Amyotrophic lateral sclerosis 1

text: ND09805 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Huntington disease

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1100;clinically affected;onset at age 38 yrs;both parents were affected;affected sib is GM04868A;1st cousin to proband;see GM05689Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: first cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Huntington disease

text: HD

text: GM05688 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09805

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND09806 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1083;unaffected;last examined on 4/82;sister of GM06681;mother of GM04708A;see GM05691Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM05690 female unaffected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09820

text: ENGLISH

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND09819 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 328;unaffected;last examined on 4/82;at risk father died at age 40. 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: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM05700 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Progressive muscular atrophy

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND09819

text: ITALIAN

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Progressive muscular atrophy

text: ND09820 male affected Progressive muscular atrophy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 423;unaffected;last examined on 4/82;affected sibs are GM05622B;GM04798A;& GM05614A;see GM05723Z 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.

text: maternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Huntington disease

characteristic: tag

text: HD

text: GM05724 male unaffected Huntington disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Als panel caucasian from the us

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: SOD1 mutation NOT present;ND09830 is unaffected spouse

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09829 male affected Als panel caucasian from the us sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1165;unaffected;last examined on 4/82;father had HD;see GM05725Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

characteristic: description

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM05726 female unaffected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09829

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND09830 female unaffected Control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1173;unaffected;last examined on 4/82;father had HD;see GM05735Z 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 uncle

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05736 male unaffected Huntington disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 36 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 1248;at risk;diag update 7/92;affected sibs are GM05622B;GM04798A;& GM05614A;see GM05739Z 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.

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM05740 male affected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 32 MO

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

text: ND09855 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 6 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Colombian;blue sclerae;pliable skull;poor mineralization of skull & short;thick;ribbon-like poorly mineralized long bones;multiple fractures;normal serum phosphoethanolamine

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: LETHAL

text: GM05747 male affected Osteogenesis imperfecta: genetics uncertain sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: African American

text: Female

characteristic: tag

text: ND09862 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: Farber lipogranulomatosis

text: 5 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hepatosplenomegaly;nodules on hands and feet;pulmonary infiltrates;anemia;hoarse cry;adenopathy;elevated liver ceramide level;undetectable acid ceramidase activity in leukocytes and fibroblasts;similarly affected sib;see GM05752 Fibro

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Farber lipogranulomatosis

text: GM05748 female affected Farber lipogranulomatosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Ndpt116 - als panel: caucasians from north america upper-limb onset

text: Als panel upper-limb onset probable and possible als

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09878 male affected ALS1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 71 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09878

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND09879 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND09887 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mental retard;no Retinoblastoma;46;XX;rec(12);dir ins(12;13)(12pter>12p11.2:: 13q12.3>13q22::12p11.2>12qter)mat;trisomic for 13q12.3>13q22;norm RBC values for LDH;TPI;& PepB;norm electrophoresis patterns for LDH;PepB;TPI;& ESD

characteristic: family id

text: sibling

text: 46;XX;der ins(12;13)(12pter> 12p11.2::13q22>13q12.3::12p11.2>12qter)mat.ish der(12)(wcp13+);46;XX;der(12)ins(12;13)(12pter->12p11.2::13q13->13q31::12p11.2->12qter)mat.ish der(12)(wcp13+).arr 7p15.3(22612295-23040185)x3;8p23.1(7254762-7825360)x1;13q13.3q31.1(38481624-83904612)x3;46;XX;der(12)ins(12;13)(12pter> 12p11.2::13q22>13q12.3::12p11.2>12qter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome insertion

text: Retinoblastoma, sporadic

text: GM05750 female unaffected Chromosome insertion sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND09901 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

characteristic: tag

text: ND09905 female affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 29 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;46;XX;dir ins (12;13)(12pter>12p11.2::13q12.3>13q22:: 12p11.2>12qter;13pter>13q12.3::13q22> 13qter);balanced;a son had bilateral Retinoblastoma & multiple anomalies;proband not in Repository

text: parent

text: 46;XX;ins(12;13)(12pter>12p11.2::13q22>13q12.3::12p11.2>12qter;13pter> 13q12.3::13q22>13qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome insertion

text: Retinoblastoma, sporadic

text: GM05751 female unaffected Chromosome insertion sample


text: Coriell

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 79 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial rupture-status undefined

text: ND09931 female affected Intracranial rupture-status undefined sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09945 female affected ALS1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Farber lipogranulomatosis

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hepatosplenomegaly;nodules on hands and feet;pulmonary infiltrates;anemia;hoarse cry;adenopathy;elevated liver ceramide level;undetectable acid ceramidase activity in leukocytes and fibroblasts;similarly affected bro;see GM05748 Lymph

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Farber lipogranulomatosis

text: GM05752 female affected Farber lipogranulomatosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND09957

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND09956 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 4 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies;dysmorphic features (hydrocephaly;anal atresia;and congenital heart defect);58% of cells show r(6) at passage 5

text: 46;XY;r(6) 29 /45;XY;-6 21

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ring chromosome

text: GM05754 male unaffected Ring chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09956

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

characteristic: tag

text: Neurologically normal caucasian control panel

text: ND09957 male unaffected Control panel for late onset parkinsons: unaffected individuals sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND09958 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 2 MO

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Skin biopsy (inguinal)

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM05756 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Als panel caucasian from the us

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND09958

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09959 male affected Als panel caucasian from the us sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (inguinal);46;XY

characteristic: description

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM05757 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND09986 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND09986

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND09987 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 1 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (inguinal)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy non-fetal tissue

text: GM05758 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Als panel caucasian from the us

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND09988 male affected Als panel caucasian from the us sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND09989 female unaffected Control panel for young onset parkinsons: unaffected individuals sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Alagille syndrome

text: 3 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hepatoductular hypoplasia;characteristic facies;and peripheral pulmonary stenosis

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Alagille syndrome

text: AGS

text: GM05759 female affected Alagille syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

characteristic: organism

text: African American

characteristic: race

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND09995 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Control

text: Homo sapiens

text: African American

text: Female

characteristic: tag

text: ND09997 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: No evidence of Wilson's disease;rheumatoid arthritis since age 21;2 affected daughters;see GM05762A Fibroblast;donor subject is heterozygous for a C>T change at nucleotide 2930 in the ATP7B gene (c.2930C>T) resulting in the substitution of methionine for threonine at codon 977 Thr977Met (T977M)

text: mother

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Wilson disease

text: GM05761 female unaffected Atpase, cu(2+)-transporting, beta polypeptide sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: Control

text: Homo sapiens

text: African American

text: Female

text: Control

text: Population/convenience control

text: Ninds african american population control plate

text: ND09998 female unaffected Control sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel upper-limb onset probable and possible als

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10013 male affected ALS1 sample


text: Coriell

text: live

text: Generic

text: 53 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: No evidence of Wilson's disease;rheumatoid arthritis since age 21;2 affected daughters;see GM05761A Lymphoid;mother of GM05339 & 05341

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Wilson disease

text: GM05762 female unaffected Wilson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 49 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND10015 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: SLOS

text: 1 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 46;XX in leukocytes;failure to thrive;developmental delay;hypotonia;microcephaly;micrognathia;simian creases;and partial syndactyly;negative family history;see GM05789 Lymphoid;donor subject is a compound heterozygote: one allele has a G>T transversion at nucleotide 413 of the DHCR7 gene (c.413G>T) resulting in the substitution of valine for glycine at codon 138 Gly138Val (G138V) and the second allele has a C>T transition at nucleotide 1213 (c.1213C>T) resulting in the substitution of tyrosine for histidine at codon 405 His405Tyr (H405Y)

text: proband

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: 7-dehydrocholesterol reductase

text: SLOS

text: Smith-lemli-opitz syndrome

text: GM05788 female affected SLOS sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: ITALIAN

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel lower-limb onset

text: Als panel lower-limb onset probable and possible als

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10016 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: CUBAN

text: brother-in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND10017 male unaffected Control panel for young onset parkinsons: unaffected individuals sample

characteristic: title


text: Coriell

text: live

text: Generic

text: SLOS

text: 1 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX in leukocytes;failure to thrive;developmental delay;hypotonia;microcephaly;micrognathia;simian creases;& partial syndactyly;negative family history;see GM05788 Fibroblast;donor subject is a compound heterozygote: one allele has a G>T transversion at nucleotide 413 of the DHCR7 gene (c.413G>T) resulting in the substitution of valine for glycine at codon 138 Gly138Val (G138V) and the second allele has a C>T transition at nucleotide 1213 (c.1213C>T) resulting in the substitution of tyrosine for histidine at codon 405 His405Tyr (H405Y)

characteristic: description

text: proband

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: 7-dehydrocholesterol reductase

text: SLOS

text: Smith-lemli-opitz syndrome

text: GM05789 female affected SLOS sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

characteristic: tag

text: Intracranial aneurysm - unruptured

text: ND10027 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 2 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND10029 male affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP30BE;severe actinic damage of skin;freckling;actinic keratoses;keratocanthomas;see GM05792 Fibroblast;donor subject is a compound heterozygote: the maternal allele has a 2 bp deletion at nucleotide 1208 in exon 8 of the XPC gene (1208_1209delAA) resulting in a frameshift at codon 368 and a stop 5 codons downstream (Q368fsX373);the paternal allele has a 2 bp deletion at nucleotide 1744 in exon 8 (1744_1745delTG) resulting in a frameshift at codon 547 and a stop 25 codons downstream (H547fsX572)

characteristic: family id

text: proband

text: XPC

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM05791 male affected Xeroderma pigmentosum, complementation group c sample