characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12438

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND12439 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


status: PUBLIC

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 74 YR

tag: attribute

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM07231 Lymphoid;clinically unaffected;2 affected children;pedigree suggests recessive inheritance

characteristic: description

text: JEWISH

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: GM07232 male unaffected Retinitis pigmentosa - 180100, 268000 or 312600 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 68 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM07234 Fibroblast;clinically unaffected;2 affected children;pedigree suggests recessive inheritance

text: JEWISH

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM07233 female unaffected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 3 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND12445 male affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 68 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM07233 Lymphoid;clinically unaffected;2 affected children;pedigree suggests recessive inheritance

text: JEWISH

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM07234 female unaffected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

text: live

text: Generic

text: 27 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: son

text: Homo sapiens

text: African American

text: Male

text: ND12456 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Pedigree suggests recessive inheritance;see GM07236 Fibroblast;onset at age 3;severely myopic;pigmentary degeneration;loss of visual acuity;typical fundus findings;constricted visual fields;similarly affected brother

characteristic: description

text: JEWISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM07235 female affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: son

text: Homo sapiens

text: African American

text: Male

characteristic: sex

characteristic: tag

text: ND12457 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 34 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pedigree suggests recessive inheritance;see GM07235 Lymph;onset at age 3;severely myopic;pigmentary degeneration;loss of visual acuity;typical fundus findings;constricted visual fields;similarly affected brother

text: JEWISH

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM07236 female affected Retinitis pigmentosa - 180100, 268000 or 312600 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND12458 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Unipolar illness;onset at age 21;mother & 2 brothers have type I bipolar illness;see GM07240 Fibroblast

text: IRISH

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM07239 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 22 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: African American

text: Female

text: ND12459 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 21 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Unipolar illness;onset at age 21;mother & 2 brothers have type I bipolar illness;see GM07239 Lymphoid;proband is GM05134 Lymphoid

characteristic: description

text: IRISH

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM07240 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND12466 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM07242 Fibroblast;at risk;alcoholism;onset at age 19;mother has type II bipolar illness

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM07241 male unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Familial intracranial aneurysm

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Familial intracranial aneurysm

text: Intracranial aneurysm - unruptured

text: ND12475 male affected Familial intracranial aneurysm sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM07241 Lymphoid;at risk;alcoholism;onset at age 19;mother has type II bipolar illness

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM07242 male unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

text: Spouse is ND12486

text: NOT HISPANIC

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND12484 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;clinically unaffected;see GM07244 Fibroblast;mother has type II bipolar illness

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM07243 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 81 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND12484

text: NOT HISPANIC

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND12486 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;clinically unaffected;see GM07243 Lymphoid;mother has type II bipolar illness

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM07244 female unaffected Major affective disorder - 125480 or 309200 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12491

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND12490 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;medical disorder with seizures;alcoholism;minor depression;onset of alcoholism at age 15 & depression at age 23;mother & brother have type I bipolar illness;see GM07246 Fibroblast

text: IRISH

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM07245 male affected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12490

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Als panel

text: Greater than 7 years survival

text: Amyotrophic lateral sclerosis 1

text: ND12491 female affected ALS1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;medical disorder with seizures;alcoholism;minor depression;onset of alcoholism at age 15 and depression at age 23;mother and brother have type I bipolar illness;see GM07245 Lymphoid;proband is GM05134 Lymphoid

text: IRISH

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM07246 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: Ischemic stroke

text: 70 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND12500

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Ndpt112 - ischemic stroke, hispanic caucasian from the united states

text: Ischemic stroke

text: ND12499 female affected Ischemic stroke sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;1 episode of minor depression at age 15;mother has type I bipolar illness;mother is dizygotic twin of mother of proband (GM07278);see GM07248 Fibroblast

characteristic: description

characteristic: family id

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM07247 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND12500 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk;1 episode of minor depression at age 15;mother has type I bipolar illness;mother is dizygotic twin of mother of proband (GM07279A);see GM07247 Lymphoid

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: GM07248 female unaffected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Ischemic stroke

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sppouse is ND12503

text: proband

text: Homo sapiens

characteristic: organism

text: African American

text: Female

text: Ischemic stroke

text: Ndpt110 - ischemic stroke, african american

text: ND12502 female affected Ischemic stroke sample


text: Coriell

text: live

text: Generic

text: 18 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM07250 Fibroblast;at risk;dizygotic twin of GM07241;mother has type II bipolar illness

text: twin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM07249 male unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: African American

text: Male

text: Control

text: Population/convenience control

text: Ischemic stroke

text: Ninds african american population control plate

text: ND12503 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM07249 Lymphoid;at risk;dizygotic twin of GM07242;mother has type II bipolar illness

text: twin

text: Homo sapiens

text: Caucasian

text: Male

text: GM07250 male unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND12506 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Consanguineous parents (brother/sister mating);cleft palate & renal agenesis;homozygous HLA type: A1;B39;Cw7;DRw6.1;BF type:1-1;GL01 type: 2-2;GC type:2-1;ACP1 type:BB;ADA type:1-1;ADK type:1-1;ESD type:1-1;PGM1 type:1-1;HP type:1-1

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM07254 male unaffected HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Asian

text: Male

characteristic: tag

text: ND12507 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 53 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected father of GM01494;GlcNAc-Phosphotransferase activity = 78% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject has one allele which has an A>C transversion at nucleotide 174 in exon 1 of the GNPTAB gene 174A>C resulting in a substitution of glutamine for lysine at codon 4 Lys4Gln (K4Q) .

text: father

text: GNPTAB

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: GNPTAB

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

text: Mucolipidosis iiia

text: GM07255 male unaffected Mucolipidosis iiia sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12516

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12511 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 51 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected with hyperlipoproteinemia;type IV;mother of GM01494;GlcNAc-Phosphotransferase activity = 70% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject has one allele which has a 2-bp deletion in exon 19 of the GNPTAB gene 3665_3666delTC resulting in a frameshift and truncation of the protein in the beta subunit L1168fsX1172 .

characteristic: family id

text: mother

text: GNPTAB

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: GNPTAB

text: Mucolipidosis iiia

text: GM07256 female unaffected Mucolipidosis iiia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected Spouse of ND12511

characteristic: description

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND12516 female unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Schizo-affective;onset at age 17;at least 10 episodes of major depression;2 episodes of mania;hospitalizations;on Lithium;Mellaril;Haldol;Cogentin;Elavil;Thorazine;& Stelazine;see GM07258 Fibroblast

text: niece

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM07257 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 29 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Schizo-affective;onset at age 17;at least 10 episodes of major depression;2 episodes of mania;hospitalizations;on Lithium;Mellaril;Haldol;Cogentin;Elavil;Thorazine;& Stelazine;see GM07257 Lymphoid

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: GM07258 female affected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 66 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected Spouse is ND12522

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12521 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 24 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Indeterminate number of episodes of hypomania;onset at age 9;no hospitalization;no medication;father has type II bipolar illness with major depression;mother has minor depression;see GM07260 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM07259 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND12521

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12522 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Indeterminate number of episodes of hypomania;onset at age 9;no hospitalization;no medication;father has type II bipolar illness with major depression;mother has minor depression;see GM07259 Lymphoid

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM07260 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12530

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND12529 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Minor depression;1 episode at age 20;father has type I bipolar illness;see GM07262 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM07261 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Minor depression;1 episode at age 20;father has type I bipolar illness;see GM07261 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM07262 female unaffected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND12530 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;onset at age 20;1 episode of depression;1 episode of mania;hospitalized twice;on Lithium;father also has type I bipolar illness;see GM07264 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM07263 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 22 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;onset at age 20;1 episode of depression;1 episode of mania;hospitalized twice;on Lithium;father also has type I bipolar illness;see GM07263 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM07264 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected Spouse is ND12532

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12531 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM07266 Fibroblast;at risk;father & brother have type I bipolar illness

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM07265 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM07265 Lymphoid;at risk;father & brother have type I bipolar illness

characteristic: description

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM07266 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12531

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12532 female unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

characteristic: tag

text: GM07267 male unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12534

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel lower-limb onset

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

text: Amyotrophic lateral sclerosis 1

text: ND12533 female affected ALS1 sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;clinically unaffected;see GM07269 Fibroblast;paternal aunt & cousin have bipolar illness;sister of GM07200B;maternal 1st cousin of a bipolar male

text: JEWISH

characteristic: ethnicity

text: maternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: GM07268 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 67 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND12534 male unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk;clinically unaffected;see GM07268 Lymphoid;paternal aunt & cousin have bipolar illness;sister of GM07199;maternal 1st cousin of a bipolar male

characteristic: description

text: JEWISH

characteristic: family id

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM07269 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND12556 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient RBC carbonic anhydrase II activity;parents are third cousins;short stature;anemia;hepatosplenomegaly;proximal and distal tubular acidosis;generalized osteoporosis

text: BELGIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: GM07270 male affected Osteopetrosis with renal tubular acidosis sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Depressive personality with minor depression;onset at age 14;mother has type I bipolar illness;mother is dizygotic twin of mother of GM07247;see GM07279A Fibroblast

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: GM07278 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 54 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial rupture-status undefined

text: ND12557 female affected Intracranial rupture-status undefined sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Depressive personality with minor depression;onset at age 14;mother has type I bipolar illness;mother is dizygotic twin of mother of GM07248;see GM07278 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM07279 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: Hyperlysinemia

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Spastic diplegia with lower extremity atrophy;mild mental deficit;occasional vomiting;avoids protein foods;confined to a wheelchair;elevated plasma and urine lysine;7-8% of normal lysine catabolism in fibroblasts

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Hyperlysinemia

text: GM07280 male affected Hyperlysinemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Primary lateral sclerosis

text: ND12560 male affected Primary lateral scleroris: caucasian, non-hispanic sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 26 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;1% of control RBC & lymphoblast APRT specific activ;1% of control cross-reacting material to antiAPRT antibodies in RBC's & lymphoblasts;normal RBC HPRT activ;46;XX;homozygous APRT codon 110;exon 4;T>C transition

text: proband

text: APRT

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Aprt 2,8-dihydroxyadenine urolithiasis included

characteristic: tag

text: Adenine phosphoribosyltransferase

text: GM07290 female unaffected Adenine phosphoribosyltransferase sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Adenine phosphoribosyltransferase

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Urolithiasis;onset at age 42;1% of control RBC APRT specific activity;normal RBC HPRT activity;1% of control cross-reacting material to anti-APRT antibodies in RBC;homozygous for APRT codon 110;exon 4;T>C transition

text: sister

text: APRT

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Adenine phosphoribosyltransferase

text: GM07291 female affected Adenine phosphoribosyltransferase sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 71 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND12560

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12565 female unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal IQ;daughter of GM07064A;46;XX in PBL;normal female by Southern analysis

characteristic: description

characteristic: family id

text: maternal cousin

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Fragile x mental retardation syndrome

text: GM07292 female unaffected Fragile x mental retardation syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Fmr1 gene

text: 33 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Institutionalized for mental retard;46;fra(X)(q27);Y in 32% of PBL;G6PD type A+;a twin;not identical by HLA typing;is institutionalized but not known if mentally retarded;negative for FMR-1 gene expression;affected male by Southern analysis

text: proband

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM07294 male affected Fmr1 gene sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;at risk;sister has type I bipolar illness;see GM07317 Fibroblast

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: GM07316 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND12575 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 53 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;at risk;sister has type I bipolar illness;see GM7316 Lymphoid;proband is GM5156 Lymphoid

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM07317 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 50 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;wife;daughter;and two sons have type I bipolar illness;proband is GM5156 Lymphoid;see GM6973 Lymphoid

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM07321 male unaffected Major affective disorder - 125480 or 309200 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12578 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;short stature;and minor structural anomalies;in 92% of cells;the del(X) was inactive with BudR labelling;same subject as GM07773

text: proband

text: 46;X;del(X)(pter->p21.3::p11.4->qter).arr Xp21.3p11.4(26898093-39114448)x1;46;X;del(X)(pter>p22.11::p21.1>qter) or del(X)(pter>p21.3::p11.4>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM07323 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND12581 female affected Intracranial aneurysm - unruptured sample


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: Type I bipolar illness;mother of GM07257;see GM07325 Fibroblast

text: JEWISH

characteristic: ethnicity

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM07324 female affected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 60 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Type I bipolar illness;mother of GM7258;see GM7324 Lymphoid

characteristic: description

text: JEWISH

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM07325 female affected Major affective disorder - 125480 or 309200 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 31 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

text: ND12582 male affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;sister has type I bipolar illness

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM07326 male unaffected Major affective disorder - 125480 or 309200 sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;brother & sister have bipolar illness;see GM07329 Fibro

text: JEWISH

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: GM07328 male unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 72 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;see GM7328 Lymphoid;brother and sister have bipolar illness

text: JEWISH

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM07329 male unaffected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 47 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: ND12586 is affected spouse

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12585 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Alcoholism;husband of GM07324;father of GM07257;see GM07331 Fibroblast

text: JEWISH

characteristic: family id

text: brother-in-law

text: Homo sapiens

text: Caucasian

text: Male

text: GM07330 male unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12585

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND12586 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 63 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Alcoholism;husband of GM7325Z;father of GM7258;see GM7330 Lymphoid

text: JEWISH

text: brother-in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: GM07331 male unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 1 DA

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Placenta biopsy;mother has same balanced translocation

text: 46;XY;t(11;22)(11pter>11q23::22q11.2> 22qter;22pter>22q11.2::11q23>11qter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM07332 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 51 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND12593

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12592 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;1 episode of minor depression after receiving Butazolidine for arthritis;sister has bipolar manic-depressive illness;see GM07336 Fibroblast

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM07335 male unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 56 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;see GM7335 Lymphoid;one episode of minor depression after receiving butazolidine for arthritis;sister has type I bipolar illness;proband is GM5156 Lymphoid

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM07336 male unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;3 affected children;heterozygous for the F508 deletion mutation PHE508DEL

text: mother

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM07337 female unaffected CF sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12592

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Asian

text: Female

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: ND12593 female unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 61 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;3 affected children;neither allele shows the F508;G551D;R553X;G542X;or N1303K mutations

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM07338 male unaffected CF sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: CF

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Two affected sibs;positive sweat test;chronic respiratory infections;no true CF pathological findings at age 6;1 allele has the F508 deletion mutation PHE508DEL

characteristic: description

text: proband

text: CFTR

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM07339 female affected CF sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

text: Ceph/utah pedigree 1331

text: GM07340 female unaffected Ceph/utah pedigree 1331 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected Spouse is ND12601

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

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

text: Amyotrophic lateral sclerosis 1

text: ND12600 female affected ALS1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1333

text: GM07341 female unaffected Ceph/utah pedigree 1333 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1340

text: GM07342 male unaffected Ceph/utah pedigree 1340 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1341

text: GM07343 female unaffected Ceph/utah pedigree 1341 sample


text: Coriell

text: live

text: Generic

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND12601 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1341

characteristic: tag

text: GM07344 female unaffected Ceph/utah pedigree 1341 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Cytochrome p450, subfamily iic, polypeptide 19

text: Ceph/utah pedigree 1345

text: GM07345 female unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample

characteristic: title


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Utah Residents (CEPH) with Northern and Western European ancestry

characteristic: Population Description

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: culture collection

text: Paternal Grandmother

characteristic: description

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: female

text: Ceph/utah pedigree 1345

text: International hapmap project - ceph (plate ii) utah residents with ancestry from northern and western europe

text: Coriell GM07346


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 79 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND12602 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: SRA accession

text: EUR

text: European

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather

text: UTAH/MORMON

characteristic: ethnicity

text: paternal grandfather

text: Homo sapiens

text: CEU

text: Caucasian

characteristic: race

text: male

text: Ceph/utah pedigree 1345

text: Coriell GM07347

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother;donor subject has a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream;resulting in a truncated;nonfunctional protein. Because of the aberrant splice site;a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682);resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region.

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Human variation panel - european caucasian panel of 8

text: Snp500 panel

text: Ceph/utah pedigree 1345

text: Human variation panel - european caucasian panel of 24

text: International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe

text: GM07348 female unaffected Human variation panel - european caucasian panel of 16 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

text: UTAH/MORMON

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

text: Snp500 panel

text: Ceph/utah pedigree 1345

text: Human variation panel - european caucasian panel of 16

text: GM07349 male unaffected Human variation panel - european caucasian panel of 8 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12602

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND12603 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1345

text: GM07350 female unaffected Ceph/utah pedigree 1345 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1345

text: GM07351 male unaffected Ceph/utah pedigree 1345 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1345

text: GM07352 male unaffected Ceph/utah pedigree 1345 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Intracranial rupture-status undefined

characteristic: tag

text: ND12614 female affected Intracranial rupture-status undefined sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1345

text: GM07353 male unaffected Ceph/utah pedigree 1345 sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1345

text: GM07354 female unaffected Ceph/utah pedigree 1345 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1345

text: GM07355 male unaffected Ceph/utah pedigree 1345 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 68 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND12615 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1345

text: GM07356 male unaffected Ceph/utah pedigree 1345 sample


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

text: Utah Residents (CEPH) with Northern and Western European ancestry

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandfather;donor subject has a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream;resulting in a truncated;nonfunctional protein. Because of the aberrant splice site;a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682);resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region.

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

characteristic: organism

text: CEU

characteristic: population

text: Caucasian

text: male

characteristic: sex

characteristic: tag

text: Coriell GM07357


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 64 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND12622

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12618 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mental retardation;small;thin;limited speech;mild micrognathia and camptodactyly;brachydactyly;hypoplastic scrotum;scoliosis;absent right kidney;two fused ribs;seizures;92% of cells show r(14) at P10

characteristic: description

text: 46;XY;r(14)(::p12->q32.3::).arr 14q32.33(103866450-106356482)x1;46;XY;r(14)(p12>q32.33)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Ring chromosome

text: GM07364 male unaffected Ring chromosome sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected Spouse is ND12623

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND12619 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Fragile x mental retardation syndrome

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;macro-orchidism;staccato;unclear speech;positive for fra(X) in PBL;2% of lymphoblast cells are positive for the Xq27-28 fragile site;affected male by Southern analysis

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Fragile x mental retardation syndrome

text: GM07365 male affected Fragile x mental retardation syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 57 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12618

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12622 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: See GM07369 Fibroblast;clinically unaffected;2 affected sibs;pedigree suggests recessive inheritance

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM07368 male unaffected Retinitis pigmentosa - 180100, 268000 or 312600 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected Spouse of ND12619

characteristic: description

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12623 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 45 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM07368 Lymphoid;clinically unaffected;2 affected sibs;pedigree suggests recessive inheritance

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM07369 male unaffected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND12625 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Zellweger syndrome

text: 2 WK

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Characteristic facies;severe hypotonia;diagnosis based upon absent hepatic peroxisomes;abnormal bile acid pattern;and pipecolic acidemia;similarly affected sib;see GM07371 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Zellweger syndrome

text: ZS

text: GM07370 female affected Zellweger syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND12627 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: ZS

text: 3 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Complementation group 8;characteristic facies;severe hypotonia;diagnosis based upon absent hepatic peroxisomes;abnormal bile acid pattern;& pipecolic acidemia;similarly affected sib;fibroblasts contain peroxisomal ghosts;see GM07370 Lymph;donor subject is homozygous for a 1 bp insertion (35insC) in the PEX26 gene;resulting in a frameshift introducing a 102-amino acid sequence distinct from normal PEX26

text: proband

characteristic: gene

text: 1-BP INS

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Peroxisome biogenesis factor 26

text: Zellweger syndrome

text: ZS

text: GM07371 female affected ZS sample


text: Coriell

text: live

text: Generic

text: Progressive muscular atrophy

text: 65 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND10684

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Progressive muscular atrophy

text: ND12631 female affected Progressive muscular atrophy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;reading difficulty & poor attention span (non-specific condition);mother has type I bipolar illness;see GM07379 Fibroblast

characteristic: description

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: GM07378 female unaffected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12633

text: JEWISH

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Primary lateral sclerosis

characteristic: tag

text: ND12632 male affected Primary lateral scleroris: caucasian, non-hispanic sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk;mother has type I bipolar illness;see GM7378 Lymphoid

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: GM07379 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 54 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: ND12632 is affected spouse

text: JEWISH

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12633 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 17 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;4 affected sibs

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: CF

text: Cystic fibrosis

text: GM07380 male unaffected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

text: CF

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Three sibs are also affected;1 allele has the F508 deletion mutation PHE508DEL;a second allele carries the 3849+10kb;C>T mutation in intron 19

characteristic: description

text: proband

text: CFTR

characteristic: gene

text: C>T (3849+10kbC>T)

characteristic: mutation

text: +10 KB

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM07381 male affected CF sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND12644 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Cystic fibrosis

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Three sibs are also affected

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: GM07382 female affected Cystic fibrosis sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: CF

text: 29 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Three sibs are also affected;1 allele has the F508 deletion mutation PHE508DEL;the other is negative for G551D;R553X;G542X;& N1303K mutations

text: brother

text: CFTR

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM07383 male affected CF sample


text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;4 affected children;heterozygous for F508 deletion mutation PHE508DEL

characteristic: description

text: father

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM07384 male unaffected CF sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: identical twin sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND12657 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;4 affected sibs

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: CF

characteristic: tag

text: Cystic fibrosis

text: GM07385 female unaffected Cystic fibrosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND12658 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;4 affected sibs

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM07386 male unaffected Cystic fibrosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;4 affected children;negative for F508;G551D;R553X;G542X;and N1303K mutations

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: CF

text: Cystic fibrosis

text: GM07387 female unaffected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10941

text: FRENCH/CANADIAN/ITALIAN

characteristic: ethnicity

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND12679 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type II bipolar illness with major depression;onset at age 34;2 episodes of major depression;1 hypomanic episode;hospitalized;on Lithium & Elavil;see GM07393 Fibroblast

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: GM07392 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 48 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type II bipolar illness with major depression;onset at age 34;2 episodes of major depression;1 hypomanic episode;hospitalized;on Lithium and Elavil;see GM7392 Lymphoid

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM07393 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 70 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND12688 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;drug abuse;generalized anxiety disorder;anti-social behavior;onset at age 13;1 manic episode lasting 6 weeks;hospitalized;on Haldol and Lithium;see GM07395 Fibroblast

characteristic: description

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: GM07394 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;drug abuse;generalized anxiety disorder;anti-social behavior;onset at age 13;one manic episode lasting 6 weeks;hospitalized;on haldol and lithium;see GM7394 Lymphoid;proband is GM5156 Lymphoid

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: GM07395 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Asian

text: Female

text: Subarachnoid hemorrhage

text: ND12690 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk;clinically unaffected;mother and 2 brothers have type I bipolar illness;see GM6972 Lymphoid;proband is GM5156 Lymphoid

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: GM07398 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: No white spots;no seizures;normal head CT & kidney ultrasound exams;clinically unaffected;6 affected sibs & father

text: paternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Tuberous sclerosis

characteristic: tag

text: Apparently healthy non-fetal tissue

text: TS

text: GM07399 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND12709

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12708 female unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: No seizures or lesions;2 small questionable white spots;no retinal lesions;head CT and kidney ultrasound scans were negative;daughter of GM07402 and GM07399

characteristic: description

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Tuberous sclerosis

text: Apparently healthy non-fetal tissue

text: TS

text: GM07400 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Als panel lower-limb onset

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12708

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Als panel lower-limb onset

text: Amyotrophic lateral sclerosis 1

text: ND12709 male affected Als panel lower-limb onset sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: No seizures;white spots;or lesions;head CT scan & kidney ultrasound exams were normal;dau of GM07402 & 07399B

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tuberous sclerosis

text: TS

text: GM07401 female unaffected Tuberous sclerosis sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12711

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12710 female unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;husband of GM07399B

text: in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Tuberous sclerosis

text: TS

text: GM07402 male unaffected Tuberous sclerosis sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 80 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND12710

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND12711 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Hemoglobin--beta locus

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: B-plus-thalassemia: donor subject is homozygous for a G>A change at position 110 of intron 1 in the HBB gene (IVS1;G>A;+110)

text: HBB

characteristic: gene

characteristic: mutation

text: G>A

text: Homo sapiens

text: Caucasian

text: Male

text: Hemoglobin--beta locus

text: HBB

text: GM07405 male affected Hemoglobin--beta locus sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: ND12712 male unaffected Control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Hemoglobin--beta locus

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Italian;B-plus-thalassemia: donor subject is a compound heterozygote: one allele has a C>G change at position -87 in the HBB gene (-87C>G);the second allele has a G>A change at position 110 of intron 1 (IVS1;G>A;+110)

characteristic: description

text: ITALIAN

characteristic: ethnicity

text: proband

text: HBB

text: G>A

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Hemoglobin--beta locus

text: HBB

text: GM07406 female affected Hemoglobin--beta locus sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 71 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: ND12723 is unaffected spouse

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Primary lateral sclerosis

text: ND12719 female affected Primary lateral scleroris: caucasian, non-hispanic sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Hemoglobin--beta locus

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Italian;B-thalassemia: donor subject is a compound heterozygote: one allele has a T>C change at position 6 of the donor site consensus sequence of intron 1 in the HBB gene IVS1;T>C;+6 (beta plus);the second allele has a splice junction mutation;a G>A change at position 1 in intron 1 IVS1;G>A;+1 (beta zero)

text: ITALIAN

text: spouse

text: HBB

characteristic: gene

characteristic: mutation

text: T>C

text: G>A

text: Homo sapiens

text: Caucasian

text: Male

text: Hemoglobin--beta locus

characteristic: tag

text: HBB

text: GM07407 male affected Hemoglobin--beta locus sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12719

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND12723 male unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 12 FW

text: Chorionic villus-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Asian/Caucasian;culture established from membrane and chorionic villi of a spontaneous abortus;47;XX;+20;10% of cells show random chromosome loss

characteristic: description

text: 47;XX;+20;47;XX;+20.arr 20p13q13.33(9292-62426585)x3

characteristic: karyotype

text: Homo sapiens

text: More than one race

text: Female

characteristic: sex

text: Aneuploid chromosome number - trisomy

text: GM07408 female unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Ischemic stroke

text: 83 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Ischemic stroke

text: ND12726 male affected Ischemic stroke sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;in-law of proband;mother of GM07200B;07208A;07210;and 07268;wife of GM07423;see GM07413 Fibroblast

text: aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

characteristic: tag

text: Major affective disorder - 125480 or 309200

text: GM07411 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12750

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND12749 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;abnormal neurological examination;microcephaly;hypospadias;heart murmur;facial and extremity abnormalities;both parents have normal karyotypes

characteristic: description

text: 46;XY;del(7)(pter->q32:).arr 7q32.3q36.3(131449883-158812469)x1;46;XY;del(7)(pter>q32:)

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM07412 male unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12749

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND12750 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 59 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;in-law of proband;mother of GM7199;GM7209;GM7211;and GM7269;wife of GM7424Z;see GM7411 Lymphoid

text: aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM07413 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND12762 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: TS

text: 66 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Periungual fibromas of toes;no shagreen patches or facial angiofibroma;white spots;calcified retinal hamartoma;father of GM07415A;donor subject is heterozygous for a 1bp insertion at nucleotide 994 in exon 10 of the TSC1 gene (c.994_995insA) resulting in a protein truncation

text: grandfather

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Tuberous sclerosis

characteristic: tag

text: Tsc1 gene

text: TS

text: GM07414 male affected TS sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: TS

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Seizures since age 4;white spots;periungual fibromas of toes;pits in tooth enamel;receives Dilantin;5 affected sibs;father & daughter;donor subject is heterozygous for a 1bp insertion at nucleotide 994 in exon 10 of the TSC1 gene (c.994_995insA) resulting in a protein truncation

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tuberous sclerosis

text: Tsc1 gene

text: TS

text: GM07415 male affected TS sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12768

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND12767 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 30 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tuberous sclerosis

text: TS

text: GM07416 female unaffected Tuberous sclerosis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND12767

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12768 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: TS

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: White spots;fibromas around fingernails;seizures during puberty;5 affected sibs & father;donor subject is heterozygous for a 1bp insertion at nucleotide 994 in exon 10 of the TSC1 gene (c.994_995insA) resulting in a protein truncation

text: paternal aunt

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Tuberous sclerosis

characteristic: tag

text: Tsc1 gene

text: TS

text: GM07417 female affected TS sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: TS

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Seizures since puberty;white spot;shagreen patch;periungual fibroma of finger;5 affected sibs & father;donor subject is heterozygous for a 1bp insertion at nucleotide 994 in exon 10 of the TSC1 gene (c.994_995insA) resulting in a protein truncation

characteristic: family id

text: paternal aunt

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Tuberous sclerosis

text: Tsc1 gene

text: TS

text: GM07418 female affected TS sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12770

characteristic: description

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND12769 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: TS

text: 29 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: White spot;treated for seizures as a child;shagreen patches;normal fundi;5 affected sibs & father;donor subject is heterozygous for a 1bp insertion at nucleotide 994 in exon 10 of the TSC1 gene (c.994_995insA) resulting in a protein truncation

text: paternal uncle

text: Homo sapiens

text: Caucasian

text: Male

text: Tuberous sclerosis

text: Tsc1 gene

text: TS

text: GM07419 male affected TS sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND12769

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12770 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: TS

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: White spots;periungual fibroma of finger;facial angiofibroma;no retinal lesions;shagreen patch;seizures;5 affected sibs & father;receives Tegretol;donor subject is heterozygous for a 1bp insertion at nucleotide 994 in exon 10 of the TSC1 gene (c.994_995insA) resulting in a protein truncation

text: paternal uncle

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Tuberous sclerosis

characteristic: tag

text: Tsc1 gene

text: TS

text: GM07420 male affected TS sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: TS

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Seizures since age 2;white spots;shagreen patch;CT scan showed brain calcifications;receives Tegretol;46;XX;donor subject is heterozygous for a 1bp insertion at nucleotide 994 in exon 10 of the TSC1 gene (c.994_995insA) resulting in a protein truncation

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Tuberous sclerosis

text: Tsc1 gene

text: TS

text: GM07421 female affected TS sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 66 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;wife of GM07414C

characteristic: description

text: grandmother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tuberous sclerosis

text: TS

text: GM07422 female unaffected Tuberous sclerosis sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND12772

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND12771 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;reduced at risk;husband of GM07411;father of GM07200B;GM07208A;GM07210;& GM07268;see GM07424 Fibroblast

text: maternal uncle

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM07423 male unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Als panel bulbar onset all definite als

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12771

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Als panel bulbar onset all definite als

text: Amyotrophic lateral sclerosis 1

text: ND12772 female affected Als panel bulbar onset all definite als sample