characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND11104 is affected spouse

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND11105 female unaffected Neurologically normal caucasian control panel sample

characteristic: title


status: PUBLIC

tag: attribute

characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Gyrate atrophy of choroid and retina

text: 22 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Progress blindness since 12;flat ERG;spinocerebel ataxia;atrophy of leg & ft mus;abnor musc bx;elevated serum ornithine level;sim aff sib;parents 2nd cous;< 5% normal ornithine aminotransferase act;unrespon in vitro to Vit B6

characteristic: description

text: ITALIAN

characteristic: ethnicity

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Gyrate atrophy of choroid and retina

characteristic: tag

text: GACR

text: GM06336 female affected Gyrate atrophy of choroid and retina sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 19 MO

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

text: ND11123 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Kenyan;healthy;HbS-Hb Kenya-gamma(G)HPFH condition;mother has sickle cell trait;non-alpha chain of Hb Kenya shows amino terminal segment seq (1-80) of the gamma chain of HbF and carboxy terminal segment (87-146) of beta chain of HbA

text: Homo sapiens

text: Black

text: Male

text: Hemoglobin, gamma a

text: GM06342 male unaffected Hemoglobin, gamma a sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND11130 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 387;clinically affected;onset at age 43 yrs;affected sibs are GM06443 & GM05554B;affected son is GM05626A;neuro exam 3/82 shows moderate chorea with parakinesias;see GM04819 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: GM06348 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND11143 is spousal control

characteristic: description

text: COLUMBIAN

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Other

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND11142 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 585;unaffected;last examined on 3/8/83;5 affected sibs;affected brother is GM04866A;see GM06363Z 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 aunt

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM06364 female unaffected Huntington disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND11142 is proband

text: COLUMBIAN

text: spouse

text: Homo sapiens

text: Other

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND11143 male unaffected Control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 61 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 606;unaffected;last examined on 3/8/83;affected sibs are GM04776B & GM05560B;1st cousin once removed to proband;see GM06365Z 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

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM06366 male unaffected Huntington disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND11148 is proband spouse

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11144 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 72 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND11145 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 386;unaffected;last examined on 3/8/83;father had HD;see GM06396Z 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 second cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM06370 female unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND11146 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 385;unaffected;last examined on 3/8/83;spouse of HD patient;mother of GM06370;see GM06375Z 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

characteristic: race

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM06376 female unaffected Huntington disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND11145 is unaffected spouse

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND11147 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND11144 is spousal control

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11148 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 613;unaffected;last examined on 3/8/83;affected father is GM04776A;affected brother is GM04738A;see GM06383Z 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: GM06384 female unaffected Huntington disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11150

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND11151 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 32 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;Santo Domingan;71% of normal ADA activity in lymphoblasts;2 affected children including GM06143.

text: SANTO DOMINGAN

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency

text: GM06415 male unaffected Severe combined immunodeficiency autosomal recessive sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11170 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;Santo Domingan;65% of normal ADA activity in lymphoblasts;2 affected children including GM06143.

characteristic: description

text: SANTO DOMINGAN

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: GM06416 female unaffected Severe combined immunodeficiency autosomal recessive sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11170

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND11171 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND11753 is proband spouse

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND11200 female unaffected Control sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Retinoblastoma

text: 30 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Persian;bilateral;familial Retinoblastoma;see GM06418 Fibroblast;46;XY;4% of cells show random chromosome loss;similarly affected son

text: PERSIAN

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Rb1 osteosarcoma, retinoblastoma-related included

text: Retinoblastoma

text: GM06417 male affected Retinoblastoma sample


text: Coriell

text: live

text: Generic

text: Retinoblastoma

text: 30 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Persian;bilateral;familial retinoblastoma;skin fibroblast culture;see GM06417 Lymphoid;46;XY;similarly affected son

text: PERSIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Retinoblastoma

text: GM06418 male affected Retinoblastoma sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND11255 is spousal control

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11254 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11254

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

characteristic: tag

text: ND11255 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Retinoblastoma

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Persian;bilateral stage IV retinoblastoma;diagnosed at age 8 mos;skin fibroblast culture;46;XY;similarly affected father

text: PERSIAN

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Retinoblastoma

text: GM06419 male affected Retinoblastoma sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Frontotemporal dementia

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: MAPT

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Frontotemporal dementia

text: ND11267 female affected Frontotemporal dementia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 2 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Severe mental retardation;small head;slight epicanthal folds;small chin;elfin ears;and only 2 creases on hands;normal urine amino and organic acids;both parents have normal karyotypes

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Ring chromosome

text: GM06420 male unaffected Ring chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister of proband ND11267

characteristic: description

characteristic: family id

text: sister

text: MAPT

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND11268 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1483;unaffected;last examined on 3/11/83;at risk father died at age 40;see GM06422Z Fibroblast

text: paternal cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Huntington disease

characteristic: tag

text: HD

text: GM06421 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND11269 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Ischemic stroke

text: 79 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Ischemic stroke

text: ND11275 male affected Ischemic stroke sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 2992;clinically affected;onset at age 31 yrs;diag update 7/04;affected parents are GM06447 & GM06651A;see GM06424Z 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: GM06423 female affected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: wife

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND11276 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 67;unaffected;last examined on 3/11/83;1 affected sib;spouse of HD patient;affected daughter is GM04766A;see GM06438Z 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

characteristic: organism

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM06437 female unaffected Huntington disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Parkinson disease

text: ND11277 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Huntington disease

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 591;clinically affected;onset at age 17 yrs;affected sib is GM04692A;neuro exam 3/82 shows reduced vertical > horizontal saccades;mild dystonia;& prominent chorea;see GM06440Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: first cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

characteristic: tag

text: HD

text: GM06439 male affected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Huntington disease

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 411;clinically affected;onset at age 40 yrs;last examined 3/11/83;aff sibs are GM06348 and GM05554B;see GM06444Z 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: GM06443 female affected Huntington disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 4 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND11278 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: ND11289 is spousal control

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11285 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Huntington disease

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 2999;clinically affected;onset at age 30 yrs;diag update 7/04;affected parents are GM06447A & GM06651A;see GM06446Z 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: Female

text: Huntington disease

text: HD

text: GM06445 female affected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11285

characteristic: description

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND11289 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Huntington disease

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 932;clinically affected;onset at age 41 yrs;affected sibs are GM05428 and GM06566;affected spouse is GM06651A;see GM06448Z 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

characteristic: race

text: Female

characteristic: sex

text: Huntington disease

text: HD

text: GM06447 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11301

text: unaffected spouse

text: Homo sapiens

text: African American

text: Female

text: Control

characteristic: tag

text: Ndpt111 - neurologicaly normal african american conrol panel

text: Population/convenience control

text: Ndpt031- african american control panel

text: ND11300 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND11312 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Code 2996;clinically affected;onset at age 34 yrs;diag update 7/04;affected parents are GM06447A & GM06651A;see GM06450Z 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: GM06449 female affected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND11315 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 547;at risk;last examined on 3/11/83;1st cousin once removed to proband;see GM06458Z 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: paternal first cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM06457 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11322

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND11320 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND11322 male unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 67% of control human acid B-glucosidase (GBA) activity;somatic cell hybrids with a single del(1) were negative for GBA by both immunoprecipitation and natural substrate enzyme assays

text: HISPANIC

characteristic: ethnicity

text: 46;XX;del(1)(pter->q43:).arr 1q43q44(236343975-247190999)x1;22q11.21(17128427-17386984)x1;46;XX;del(1)(pter>q42:)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Chromosome deletion

text: GM06473 female unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND11325 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 552;unaffected;last examined on 3/14/83;5 affected sibs;brother of GM04866A;see GM06480Z 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 uncle

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM06481 male unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13408

characteristic: description

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND11326 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 188;unaffected;last examined on 3/14/83;affected sibs are GM04479;GM04876A;& GM04886A;see GM06498Z 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

characteristic: race

text: Male

text: Huntington disease

text: HD

text: GM06499 male unaffected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND11340 female unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 4 WK

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy

text: proband

text: 45;XY;der(13)(13pter>13q34::22q11.2>22qter);-22;45;XY;der(13;22)(13pter->13q34::22q11.2->22qter).arr 13q34(109873916-114126487)x1;22q11.1q11.21(14435170-19364809)x1

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Translocated chromosome

text: GM06526 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND11356 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Huntington disease

text: 11 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 1069;clinically affected;onset at age 23 yrs;diag update 7/04;affected mother is GM04856B;see GM06529Z 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: GM06528 male affected Huntington disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND11357 female unaffected Control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1068;probable HD;last examined on 3/21/83;affected mother is GM04856B;see GM06531Z 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

characteristic: race

text: Female

text: Huntington disease

text: HD

text: GM06530 female unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 62 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11372

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

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

text: Amyotrophic lateral sclerosis 1

text: ND11371 male affected ALS1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1070;at risk;last examined on 3/21/83;affected mother is GM04856B;see GM06533Z 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: GM06532 female unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11371

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND11372 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 171;unaffected spouse of GM04856B;see GM06539Z 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

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM06538 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND11384.

text: IRISH;ENGLISH

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11373 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: No stigmata of Turner syndrome or hypothyroidism;pos fam hx of short stature and pubertal delay;height below the 3rd percentile;brachydactyly;no suggestion of chondrodysplasia;occ. hyperactivity;sleep disturbances;easily upset

text: 45;X 36 /46;X;r(X)(::p22.3->q24::) 14 .arr Xp22.33q28(229433-154887040)x1 2;45;X 36 /46;X;r(X)(::p22.3>q24::) 14;45;X 42 /46;X;r(X)(::p22.3>q24::) 7 /46;X;+mar 1

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ring chromosome

text: GM06563 female unaffected Aneuploid chromosome number - non-trisomic sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11380

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11379 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Huntington disease

text: 37 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1002;clinically affected;onset at age 42 yrs;affected sibs are GM05428B & GM06447A;see GM06567Z 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

characteristic: race

text: Female

characteristic: sex

text: Huntington disease

text: HD

text: GM06566 female affected Huntington disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11379

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel lower-limb onset

characteristic: tag

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

text: Amyotrophic lateral sclerosis 1

text: ND11380 male affected ALS1 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Huntington disease

text: 31 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 950;clinically affected;onset at age 26 yrs;niece of GM05428B;see GM06582Z 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: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM06581 female affected Huntington disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11387

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND11388 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 994;at risk;last examined on 3/83;affected sibs are GM05428B;06566;& 06447A;see GM06586Z 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: GM06585 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11390

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11389 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 54 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 940;unaffected;last examined on 3/24/83;affected sibs are GM05428B;GM06566;& GM06447A;see GM06594Z 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: GM06593 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND11390 female unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1158;probable HD;affected mother is GM04766A;affected father is GM06685;see GM06596Z Fibroblast. Investigators ordering this cell line may;after receiving the culture;tender a request in writing for the available CAG repeat data for this individual.

text: first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM06595 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND11402 male affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 17 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 2993;clinically affected;onset at age 33 yrs;diag update 7/04;affected parents are GM06447A & GM06651A;see GM06602Z 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: GM06601 female affected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND11404 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;2 sons have same inv(X);28% of cells have additional X chromosome;in all cells the inv(X) was late labelling

characteristic: description

text: 46;X;inv(X)(pter>p11.4::q22.1>p11.4:: q22.1>qter)/47;XX;+inv(X)(pter>11.4:: q22.1>p11.4::q22.1>qter);46;X;inv(X)(pter>p11.4::q22.1>p11.4:: q22.1>qter) 36 /47;XX;+inv(X)(pter>11.4:: q22.1>p11.4::q22.1>qter) 14

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Inverted chromosome

text: GM06626 female unaffected Inverted chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11408

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND11409 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 81 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1040;unaffected;last examined on 3/83;probable escapee;mother had HD;see GM06630Z 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 great uncle

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Huntington disease

text: HD

text: GM06629 male unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11412.

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND11411 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Huntington disease

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 934;clinically affected;onset at age 38 yrs;affected sib is GM06651A;affected father is GM06767;see GM06632Z 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: GM06631 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected Spouse of ND11411

characteristic: description

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND11412 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 920;at risk;last examined on 3/26/83;affected sib is GM06767;see GM06634Z 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

characteristic: race

text: Male

text: Huntington disease

text: HD

text: GM06633 male unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11429 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 933;clinically affected;onset at age 36 yrs;diag update 7/04;affected parents are GM06447A & GM06651A;see GM06644Z 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

characteristic: tag

text: HD

text: GM06643 male affected Huntington disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11429

text: unaffected spouse

text: Homo sapiens

text: Other

text: Male

text: Control

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND11430 male unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Huntington disease

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Code 931;clinically affected;onset at age 46 yrs;affected father is GM06767;affected sib is GM06631;see GM06652Z 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: GM06651 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND11445.

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11442 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 923;unaffected;last examined on 3/83;affected sib is GM06767;see GM06656Z 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

characteristic: organism

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM06655 female unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11442.

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Als panel lower-limb onset

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

text: Amyotrophic lateral sclerosis 1

text: ND11445 male affected ALS1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 603;unaffected;last examined on 3/29/83;5 affected sibs;affected brother is GM04866B;see GM06676Z 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 uncle

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Huntington disease

text: HD

text: GM06677 male unaffected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

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: Amyotrophic lateral sclerosis 1

text: ND11451 male affected ALS1 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 1113;unaffected;last examined on 3/29/83;mother had HD;sib is GM05690A;see GM06680Z 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: GM06681 female unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND11452 female unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Huntington disease

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Code 70;clinically affected;onset at age 60 yrs;diag update 7/92;father had HD;affected spouse is GM04766A;prob affected dau is GM06595;see GM06684Z 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: GM06685 male affected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: UNAFFECTED SPOUSE IS ND11483

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11481 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type 1 bipolar illness;onset at age 42;1 episode of mania;received Lithium;Cogentin;& Haldol;required hospitalization

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM06713 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister-in-law

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND11482 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Huntington disease

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 929;clinically affected;onset at age 51 yrs;affected children are GM06651A & GM06631;unaffected spouse is GM06615Z Fibroblast;see GM06766Z 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

characteristic: tag

text: HD

text: GM06767 male affected Huntington disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: UNAFFECTED SPOUSE OF ND11481

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11483 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Huntington disease

text: 21 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Code 1196;clinically affected;onset at age 36 yrs;diag update 7/04;father had HD;see GM06768Z 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: GM06769 female affected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11507 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 598;clinically affected;onset at age 30 yrs;last examined on 4/83;4 affected sibs;brother of GM04866B;see GM06772Z 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: paternal uncle

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM06773 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11507

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND11508 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Code 917;unaffected;last examined on 4/4/83;affected sib is GM06767;father had HD;see GM06776Z 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

characteristic: race

text: Male

text: Huntington disease

text: HD

text: GM06777 male unaffected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11519

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11514 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 6 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 84% of cells are 46;XX;i(13) at passage 5;cleft lip & palate;scalp hemangioma;microphthalmia

text: 46;XX;i(13)(qter>q10::q10>qter) 42 /46;XX;r(13) 8

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Isochromosome

characteristic: tag

text: GM06799 female unaffected Isochromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11516

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND11515 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 2 MO

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Craniofacial dysmorphia;both parents have normal karyotypes

text: 46;XY;del(6)(pter->q25:).arr 6q25.2q27(154838869-170824447)x1;16p13.2(8681185-8891770)x3;46;XY;del(6)(pter>q25:)

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM06802 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive muscular atrophy

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND11515

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Progressive muscular atrophy

text: ND11516 female affected Progressive muscular atrophy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Chromosome deletion

text: 18 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Aniridia;mental retardation;hypogonadism;abnormal right kidney;high arched palate;microphallus;cryptorchidism;and dysplastic testes;50% of normal mother's catalase act;46;XY;del(11)(pter>p13:: p11.2>qter);1 copy of catalase gene

text: 46;XY;del(11)(pter->p14::p12->qter).arr 11p14.1p12(29201568-38196267)x1;46;XY;del(11)(pter>p13::p11.2>qter)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Wilms tumor 1

text: Chromosome deletion

text: GM06803 male affected Chromosome deletion sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11518.

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11517 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Lesch-nyhan syndrome

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: No detectable HPRT;normal APRT activity in fibroblasts;has an exon 2;3 duplication in the HPRT1 gene & a correspondingly elongated HPRT mRNA;see GM01662A Fibro;atypical disease: lacks compulsive self-mutilation & mental retardation

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: LNS

characteristic: tag

text: Hypoxanthine guanine phosphoribosyltransferase 1

text: Lesch-nyhan syndrome

text: HPRT

text: GM06804 male affected Lesch-nyhan syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND11518.

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND11518 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Krabbe disease

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Seizures;cortically blind;developmental delay;poor feeding;onset at age 6 months;deficient WBC lactosylceramide B-galactosidase activity;see GM06806 Fibroblast;donor subject is homozygous for a 30 kb deletion beginning near the middle of intron 10 in the GALC gene resulting in the loss of the sequences encoded by exons 11-17 plus an additional 9 kb

characteristic: description

text: proband

text: GALC

text: 30-KB DEL

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Krabbe disease

text: GM06805 female affected Krabbe disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11514

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND11519 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Galactosylceramidase

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Seizures;cortically blind;developmental delay;poor feeding;onset at age 6 months;deficient WBC lactosylceramide B-galactosidase activity;see GM06805 Lymphoid;donor subject is homozygous for a 30 kb deletion beginning near the middle of intron 10 in the GALC gene resulting in the loss of the sequences encoded by exons 11-17 plus an additional 9 kb

characteristic: family id

text: proband

text: GALC

characteristic: gene

text: 30-KB DEL

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GALC

text: Galactosylceramidase

text: Krabbe disease

text: GM06806 female affected Galactosylceramidase sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 73 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND11522 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;heterozygote level of lactosylceramide B-galactosidase activity in WBC;see GM06810 Fibroblast;donor subject is heterozygous for a 30 kb deletion beginning near the middle of intron 10 in the GALC gene resulting in the loss of the sequences encoded by exons 11-17 plus an additional 9 kb

text: father

text: GALC

text: 30-KB DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Krabbe disease

text: GM06807 male unaffected Krabbe disease sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND11523 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;heterozygote level of lactosylceramide B-galactosidase activity in WBC;see GM06809 Lymphoid;donor subject is heterozygous for a 30 kb deletion beginning near the middle of intron 10 in the GALC gene resulting in the loss of the sequences encoded by exons 11-17 plus an additional 9 kb

characteristic: description

text: mother

text: GALC

text: 30-KB DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GALC

text: Galactosylceramidase

text: Krabbe disease

text: GM06808 female unaffected Galactosylceramidase sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11525.

characteristic: family id

text: proband

text: Homo sapiens

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11524 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;heterozygote level of lactosylceramide B-galactosidase activity in WBC;see GM06808 Fibroblast;donor subject is heterozygous for a 30 kb deletion beginning near the middle of intron 10 in the GALC gene resulting in the loss of the sequences encoded by exons 11-17 plus an additional 9 kb

text: mother

text: GALC

characteristic: gene

text: 30-KB DEL

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Krabbe disease

text: GM06809 female unaffected Krabbe disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 76 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND11524

text: unaffected spouse

text: Homo sapiens

text: Other

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND11525 female unaffected Control sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;heterozygote level of lactosylceramide B-galactosidase activity in WBC;see GM06807A Lympohid;donor subject is heterozygous for a 30 kb deletion beginning near the middle of intron 10 in the GALC gene resulting in the loss of the sequences encoded by exons 11-17 plus an additional 9 kb

text: father

text: GALC

text: 30-KB DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: GALC

text: Galactosylceramidase

text: Krabbe disease

text: GM06810 male unaffected Galactosylceramidase sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11526 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Ectopia lentis

text: 28 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Similarly affected son;progressive dislocation of the lens;glaucoma;bilateral surgical anophthalmos

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Isolated

text: Ectopia lentis

text: GM06812 female affected Ectopia lentis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND11527 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Myotubular myopathy 1

text: 1 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Hypotonia;respiratory distress;cryptorchidism mild contractures of knees;overlapping fingers;micrognathia;46;XY in lymphs and fibros;two nucleotide changes;646delT and C>A at 648;result in frameshift in exon 8 in MTM1 gene

characteristic: gene

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Myotubular myopathy 1

text: GM06813 male affected Myotubular myopathy 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND11528 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: A2;Bw38;Dw6;DRw6;& SB2;4;product of consanguineous (first cousin) marriage;line WVD

text: DUTCH

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: GM06816 female unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 63 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND11529 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: A1;Bw60;Dw6;DRw6;& SB4;product of consanguineous (first cousin) marriage;line APD

characteristic: description

text: DUTCH

text: Homo sapiens

text: Caucasian

text: GM06817 unknown unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11530 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Homozygous HLA type: A3;B7;Cw7;Dw6;DRw6;& SB4;product of consanguineous (first cousin) marriage;line HHK

text: DUTCH

text: Homo sapiens

text: Caucasian

characteristic: tag

text: GM06818 unknown unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11530.

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND11531 male unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: A2;B18;Cw5;Dw7;DR5;& SB2;product of consanguineous (first cousin) marriage;line JVM

text: DUTCH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: GM06819 male unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 62 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11532.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11533 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: A25;B18;Dw5;DR5;& SB2;product of consanguineous (first cousin) marriage;line THR

characteristic: description

text: DUTCH

text: Homo sapiens

text: Caucasian

text: GM06820 unknown unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11537.

text: AZORES

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11536 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Homozygous HLA type: A2;Bw62;Cw3;Dw4;DR4;and SB2;product of consanguineous (first cousin) marriage;line BSM

text: DUTCH

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: GM06821 female unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11536

text: ITALY;SCOTLAND

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11537 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: A1;B8;Cw7;Dw3;DR3;& SB4;product of consanguineous (first cousin) marriage;line HAR

text: DUTCH

text: Homo sapiens

text: Caucasian

text: GM06822 unknown unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 77 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND11539 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: A1;B8;Cw7;Dw3;DR3;and SB2;product of consanguineous (first cousin) marriage;line AVL

characteristic: description

text: DUTCH

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM06823 female unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 81 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND11540 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Homozygous HLA type: A26;B18;Cw5;Dw3;DR3;& SB2;product of consanguineous (first cousin) marriage;line QBL

text: DUTCH

text: Homo sapiens

text: Caucasian

text: GM06824 unknown unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11545

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Als panel

text: Greater than 7 years survival

text: Amyotrophic lateral sclerosis 1

text: ND11544 male affected ALS1 sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: Aw23;B7;Cw7;Dw2;DR2;and SB2;product of consanguineous (first cousin) marriage;line IWB

text: DUTCH

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: GM06825 female unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11549.

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11548 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: Aw32;B27;Cw2;Dw1;DR1;& SB2;product of consanguineous (first cousin) marriage;line MVL

text: DUTCH

characteristic: ethnicity

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM06826 female unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND11548.

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11549 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: A26;Bw56;Cw1;Dw1;DR1;& SB2;product of consanguineous (first cousin) marriage;line OOS

text: DUTCH

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: GM06827 male unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected spouse is ND11553.

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11551 female unaffected Population/convenience control sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homozygous HLA type: A11;Bw35;Cw4;Dw1;DR1;& SB2;4;product of consanguineous (first cousin) marriage;line BVR

text: DUTCH

text: Homo sapiens

text: Caucasian

text: Female

text: GM06828 female unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND11589

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND11552 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 4 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;bilateral aniridia;pupils were noted to be large at birth and were non-reactive to light;no nystagmus;discs somewhat grayish;hypoplastic maculae;dolichocephaly;bilateral clubfoot;small hydrocele;renal ultrasound normal;no Wilm's tumor at age 4 years;intellectually normal;normal catalase;no 11p deletion.

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: GM06830 male affected Aniridia: types 1 or 2 - 106200 or 106210 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11551

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11553 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;t(8;15)(8qter>8p23::15q25>15qter;15pter>15q25::8p23>8pter)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

characteristic: tag

text: GM06832 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11563

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND11560 male unaffected Population/convenience control sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Fmr1 gene

text: 5 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Seizures;borderline IQ;large ears;positive family history for fra(X) and mental retardation;46;fra(X)(q27);Y in PBL but not observed in lymphoblast culture;son of GM06903A;affected male by Southern and PCR analyses;CGG repeats >200

text: maternal cousin

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06852 male affected Fmr1 gene sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 41 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND11560

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND11563 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;10% of cells show random chromosome loss

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM06859 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND11567 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 36 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;10% of cells show random chromosome loss and 8% are tetraploid

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM06861 male unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 37 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11580 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX with 4% of the cells examined showing random chromosome loss and 2% showing random chromosomal aberrations

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM06862 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother-in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: ND11584 male unaffected Control sample


text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Average IQ;1 affected son;3 affected nephews;1 affected niece;negative for fra(X) in PBL;carrier female by Southern analysis

characteristic: family id

text: maternal aunt

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Fragile x mental retardation syndrome

characteristic: tag

text: GM06863 female unaffected Fragile x mental retardation syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11588

text: proband

text: Homo sapiens

text: Caucasian

text: Female

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

text: Amyotrophic lateral sclerosis 1

text: ND11585 female affected ALS1 sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 10 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Normal IQ & development;1 affected brother;4 affected cousins;daughter of GM06863B;negative for fra)X) in PBL;normal female by Southern analysis

text: maternal cousin

text: Homo sapiens

text: Black

text: Female

text: Fragile x mental retardation syndrome

text: GM06864 female unaffected Fragile x mental retardation syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND11585

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND11588 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal functioning and development;1 affected brother;4 affected cousins;son of GM06863B;negative for fra(X) in PBL;normal male by Southern analysis

text: maternal cousin

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Fragile x mental retardation syndrome

text: GM06865 male unaffected Fragile x mental retardation syndrome sample


text: Coriell

text: live

text: Generic

text: Als panel bulbar onset all definite als

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11552

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Als panel bulbar onset all definite als

text: Amyotrophic lateral sclerosis 1

text: ND11589 female affected Als panel bulbar onset all definite als sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hyperthymic personality;46;XX;12% of cells show random chromosome loss/gain

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM06867 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 75 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Father in ALS trio;proband is ND14816

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND11593 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 1 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Microcephaly;developmental delay;epicanthal folds;broad philtrum;clinodactyly;absent depressor angulus oris muscle;hemiparesis;centromere of isochromosome confirmed by probe (D18Z1) analysis;see GM06871 Fibroblast

text: LATIN AMERICAN

characteristic: ethnicity

text: proband

text: 47;XX;+i(18)(pter->p10::p10->pter).arr 18p11.32p11.21(1543-15391751)x4;47;XX;+i(18)(pter>p10::p10>pter)

text: Homo sapiens

text: Caucasian

text: Female

text: Copy number variation (cnv) reference panel

text: GM06870 female unaffected Aneuploid chromosome number - non-trisomic sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND11608

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND11607 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Microcephaly;developmental delay;epicanthal folds;broad philtrum;clinodactyly;absent depressor angulus oris muscle;hemiparesis;centromere of isochromosome confirmed by probe (D18Z1) analysis of lymphoid culture;see GM06870 Lymphoid

text: LATIN AMERICAN

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: GM06871 female unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11607

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

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

text: Amyotrophic lateral sclerosis 1

text: ND11608 female affected Ndpt116 - als panel: caucasians from north america upper-limb onset sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Cleft lip & palate;empty right eye socket;radial denervation of wrists;duplication of great toes;scalp hemangioma;passage 3 at IMR;46;XX;r(13) was also seen in blood lymphocytes

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Isochromosome

text: GM06873 female unaffected Isochromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 71 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND11610

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND11609 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;8% of cells show random chromosome loss/gain

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM06875 male unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11609

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Als panel

text: Greater than 7 years survival

text: Amyotrophic lateral sclerosis 1

text: ND11610 female affected ALS1 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type II bipolar illness with major depression;hyperthymic personality;onset at age 15;numerous episodes of major depression;2 episodes of hypomania;hospitalized once;received ECT;Parnate;& Stelazine

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM06876 female affected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11622

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel

text: Greater than 7 years survival

text: Amyotrophic lateral sclerosis 1

text: ND11617 female affected ALS1 sample