characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;possible heterozygote;affected brother and 2 nephews;46;XX in peripheral blood lymphocytes;normal female by Southern and PCR analyses;CGG repeats are 30 and 23

text: sister

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06889 female unaffected Fmr1 gene sample


status: PUBLIC

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: 35 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Affected spouse is ND11617.

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND11622 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;affected brother and 2 nephews;46;XY in peripheral blood lymphocytes;normal male by Southern and PCR analyses;CGG repeat is 30

text: brother

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06890 male unaffected Fmr1 gene 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: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11641

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11639 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 29 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;affected brother and 2 nephews;negative for fra(X) in peripheral blood lymphocytes;normal transmitting male by Southern and PCR analyses;CGG repeat is 100-117;DNA obtained from the donor subject's lymphoblastoid cell line was sequenced in triplicate and the average CGG repeat in the FMR1 gene is 118

characteristic: description

text: brother

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06891 male unaffected Fmr1 gene sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 85 YR

text: B-Lymphocyte

text: NINDS Repository

text: SCOTTISH IRISIH

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: PD

characteristic: tag

text: Parkinson disease

text: ND11641 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 84 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;affected grandson and 2 great-grandsons;suspected non-expressing carrier;46;XY in peripheral blood lymphocytes and lymphoid culture;normal transmitting male by Southern and PCR analyses;CGG repeat is 80-85;DNA obtained from the donor subject's lymphoblastoid cell line was sequenced in triplicate and the average CGG repeat in the FMR1 gene is 93

text: maternal grandfather

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06892 male unaffected Fmr1 gene sample

characteristic: title


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: Parkinson disease

text: 62 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND11642 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;affected brother and 2 nephews;46;XX in PBL;normal female by Southern and PCR analyses;CGG repeats are 30 and 23

characteristic: description

characteristic: family id

text: sister

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06893 female unaffected Fmr1 gene sample


text: Coriell

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: ND11643 female unaffected Control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;1 affected son and 2 grandsons;46;XX in peripheral blood lymphocytes;carrier female by Southern and PCR analyses;CGG repeats are 78 and 30

text: mother

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06894 female unaffected Fmr1 gene sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND11660 female unaffected Control sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 55 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;1 affected son and 2 grandsons;46;XY in peripheral blood lymphocytes;normal male by Southern and PCR analyses;CGG repeat is 23

text: father

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Apparently healthy non-fetal tissue

text: Fragile x mental retardation syndrome

text: GM06895 male unaffected Fragile x mental retardation syndrome sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11663

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11662 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;2 affected sons and a brother;negative for fra(X) in PBL;carrier female by Southern and PCR analyses;CGG repeats are 95-120-140 and 23

text: sister

characteristic: gene

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Fmr1 gene

characteristic: tag

text: Fragile x mental retardation syndrome

text: GM06896 female unaffected Fmr1 gene sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11667.

text: proband

text: (GGGGCC)n EXPANSION

characteristic: mutation

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: ND11668 female affected ALS1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Fmr1 gene

text: 25 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;typical facies;large ears;macro-orchidism;46;fra(X)(q27);Y in PBLs;in lymph culture;2% of cells are positive with methotrexate and 6% are positive with FudR;low but detectable FMR-1 gene expression;CGG repeat size of 477 in the FMR1 gene as detected by PCR (normal size range is 5-45 repeats);full mutation (fully methylated) characteristic of Fragile X syndrome.

text: proband

text: 46;fra(X)(q27);Y 6% of cells show fra(X) with FudR 2% show fra(X) with methotrexate

characteristic: karyotype

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06897 male affected Fmr1 gene sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND11694

characteristic: description

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Other

characteristic: race

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND11693 female unaffected Control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Positive family history for dietary protein intolerance by the mother & neonatal death in the maternal uncle;minimal awareness of surroundings;hypertonic;no detectable liver OTC activity in liver biopsy

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: OTC

text: GM06902 male affected Ornithine transcarbamylase deficiency, hyperammonemia due to sample


text: Coriell

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: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11693

text: proband

text: Homo sapiens

text: Other

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11694 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

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 normal;affected son is GM06852A;daughter of GM06904A and GM06906A;negative for fra(X) in peripheral blood lymphocytes;carrier female by Southern and PCR analyses;CGG repeats are 95 and 23

text: maternal cousin

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06903 female unaffected Fmr1 gene sample


text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND11712

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

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

text: Amyotrophic lateral sclerosis 1

text: ND11711 male affected ALS1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;spouse of GM06906A;mother of GM06903A and 06907A;1 affected grandson;negative for fra(X) in PBL;normal female by Southern and PCR analyses;CGG repeats are 29 and 23

text: in-law

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06904 female unaffected Fmr1 gene sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11711

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND11712 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 72 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;1 affected son and great-grandson;negative for fra(X) in PBL;carrier female by Southern and PCR analyses;CGG repeats are 70 and 23

text: maternal cousin

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06905 female unaffected Fmr1 gene sample


text: Coriell

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND11714

characteristic: description

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND11713 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;affected brother and grandson;son of GM06905A;husband of GM06904A;father of GM06903A and GM06907A;suspected carrier and negative for fra(X) in both PBL and lymph culture;normal transmitting male by Southern and PCR analyses;CGG repeat is 85-90;DNA obtained from the donor subject's lymphoblastoid cell line was sequenced in triplicate and the average CGG repeat in the FMR1 gene is 96

characteristic: family id

text: maternal cousin

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06906 male unaffected Fmr1 gene sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11713

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11714 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;affected nephew and uncle;sister of GM06903A;daughter of GM06904A and GM06906A;negative for fra(X) in PBL;carrier female by Southern and PCR analyses;CGG repeats are 85 and 29

text: maternal cousin

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Fmr1 gene

characteristic: tag

text: Fragile x mental retardation syndrome

text: GM06907 female unaffected Fmr1 gene sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 68 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11715 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;negative for fra(X) in PBL;carrier female by Southern and PCR analyses;CGG repeats are 75-89 and 30

characteristic: description

characteristic: family id

text: maternal aunt

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06910 female unaffected Fmr1 gene sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND11716 female unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Slow;daughter of GM06910: negative for fra(X) in PBL;normal female by Southern analysis;PCR analysis shows that 1 allele has CGG repeats of 30 and a second allele which did not amplify is also in the normal range

text: maternal cousin

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06911 female unaffected Fmr1 gene sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 63 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: NOT HISPANIC

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND11727 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Fmr1 gene

text: 17 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Ment retard & hyperactivity;3 aff male cousins & 1 aff female cousin;pos for fra(X) in PBL;in lymph cult;16% of cells are pos with FudR & 8% pos with methotrexate;neg for FMR-1 gene expression;aff male by Southern analysis

characteristic: description

characteristic: family id

text: proband

characteristic: gene

text: 46;fra(X)(q27);Y 16% of cells show fra(X) with FudR 8% show fra(X) with methotrexate

characteristic: karyotype

text: (CGG)n EXPANSION

text: Homo sapiens

text: Black

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06912 male affected Fmr1 gene sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11734

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Primary lateral sclerosis

text: ND11729 male affected Primary lateral scleroris: caucasian, non-hispanic sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: One affected son;3 affected nephews;1 affected niece;sib of GM06863B;negative for fra(X) in PBL and lymphoblast culture;carrier female by Southern analysis

text: mother

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Fragile x mental retardation syndrome

text: GM06913 female unaffected Fragile x mental retardation syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 45 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11727

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND11731 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Fanconi anemia, complementation group a

text: 12 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;complementation group A;pancytopenia;lymphocytes show multiple chromosome breaks;untransformed fibroblasts show high frequency of spontaneous chromosome aberrations and extreme sensitivity to cell killing by mitomycin-C;T-antigen positive;SV40 transformed GM01309.

characteristic: description

characteristic: family id

text: proband

text: Modal no. of chromosomes is 78;range is 73 to 81;multiple copies of most chromosomes;markers 2q;3p;11p & 11q+

text: Homo sapiens

text: Black

text: Male

text: Fanconi anemia, complementation group a

text: FANCA

text: GM06914 male affected Fanconi anemia, complementation group a sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11729

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND11734 female unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital malformations and developmental delay;mental retardation;multiple skeletal abnormalities;short stature;widow's peak;downward slanting palpebral fissures;high arched palate;micrognathia

text: proband

text: 46;XY;del(21)(pter->q11.2::q22->qter).ish del(21)(wcp21+).arr 6q26(162784828-162990795)x1;21q11.2q22.11(15275679-32592618)x1;46;XY;del(21)(pter>q11.2::q22.1>qter) .ish del(21)(wcp21+);15p+.ish 15p+ (wcp21-)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Chromosome deletion

text: GM06918 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11740.

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND11741 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 30 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Five primary melanomas;multiple pigmented dysplastic nevi;similarly affected mother and uncle;donor subject has a nonsense mutation at codon 58 (CGA to TGA) of the CDKN2A (p16) gene which results in a stop codon in place of arginine ARG58TER (R58X) .

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Melanoma, cutaneous malignant, 2

text: Cyclin-dependent kinase inhibitor 2a

text: GM06921 male affected CMM2 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 69 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND11756

characteristic: description

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND11751 female unaffected Neurologically normal caucasian control panel sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diabetes;bone pain;metastatic breast carcinoma;has received external radiation therapy;culture established using Epstein-Barr virus

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Al included

text: GM06923 female affected Myeloma, multiple amyloidosis, primary included sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Progressive muscular atrophy

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11200

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Progressive muscular atrophy

text: ND11753 male affected Progressive muscular atrophy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 31 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: 46;XY;t(1;3)(1pter>1q32.1::3p25.1>3pter;3qter>3p25.1::1q32.1>1qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM06924 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11756 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Olivopontocerebellar atrophy type 1;spinocerebellar ataxia;6 affected generations;see GM06927 Fibroblast;analysis of ATXN1 (ATX1) alleles showed normal allele with 29 CAG repeats and expanded allele with 52 repeats

characteristic: description

text: proband

characteristic: gene

text: (CAG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Ataxin 1

text: Spinocerebellar ataxia 1

text: GM06926 male affected SCA1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND11762 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Spinocerebellar ataxia 1

text: 29 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Olivopontocerebellar atrophy type I;spinocerebellar ataxia;6 affected generations;see GM06926 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Spinocerebellar ataxia 1

text: GM06927 male affected Spinocerebellar ataxia 1 sample


text: Coriell

text: live

text: Generic

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND11763 male unaffected Control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Sun sensitive high cancer syndrome

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mental retardation;microcephaly;short stature;hypogonadism;photosensitivity;abnormal neurologic exam;& typical skin findings;no defects in DNA repair or replication observed in fibroblasts

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Sun sensitive high cancer syndrome

text: GM06934 male affected Sun sensitive high cancer syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11787

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND11783 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;pancytopenia;brown patchy pigmentation on skin;untransformed fibroblasts are not sensitive to cell killing by mitomycin-C or diepoxybutane even at higher concentrations;modal number of chromosomes is 114;range is 106 to 122;structural aberrations & polyploidy;SV40 transformed GM02053.

text: ARABIAN

characteristic: ethnicity

characteristic: family id

text: proband

text: Female;modal no. of chromosomes=114;range=106 to 122;structural aberrations and polyploidy

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: GM06935 female affected Fanconi anemia complementation group undetermined sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Control

characteristic: tag

text: Population/convenience control

text: ND11787 male unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 2 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Developmental delay and dysmorphic features;parents both have normal karyotypes;see GM06937 Fibroblast;gene copy numbers: D10S17-1;D10S28-1;VIM-2;and D10S34-2

text: proband

text: 46;XX;del(10)(:p13->qter).arr 10p15.3p13(94427-12918932)x1;46;XX;del(10)(:p13>qter);46;XX;del(10)(qter>p13:)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Copy number variation (cnv) reference panel

text: Chromosome deletion

text: GM06936 female unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND11798 male affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Developmental delay and dysmorphic features;parents both have normal karyotypes;see GM06936 Lymphoid

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM06937 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND11799 male affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 3 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Micropenis;cryptorchidism;bilateral aniridia;optic nerve atrophy;genital skin fibroblast culture;46;XY;del(11) (pter>p14.1::p13>qter);see GM07736 Lymphoid

text: proband

text: 46;XY;del(11)(pter->p14::p13>qter).arr 11p14.1p13(28228292-34918867)x1;46;XY;del(11)(pter>p14.1::p13>qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: Wilms tumor 1

text: Chromosome deletion

text: GM06938 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: 59 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11810

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11808 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Choroideremia

text: 41 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Slowly progressive loss of vision with nightblindness;negative family history;striking atrophy of the pigment epithelium

text: ECUADORIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Choroideremia

text: CHM

text: GM06940 male affected Choroideremia sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11811

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND11809 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son has unbalanced translocation & Down syndrome;see GM06944 Fibroblast

characteristic: family id

text: parent

text: 46;XX;t(21;22)(21qter>21p12::22q11.1> 22qter;22pter>22q11.1::21p12>21pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM06943 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11808

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND11810 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Translocated chromosome

text: 24 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son has unbalanced translocation and Down Syndrome;see GM06943 Lymphoid

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM06944 female affected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND11809

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND11811 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Lipase deficiency

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Increased LDL & IDL;skin xanthomata;coronary heart disease & diabetes mellitus;3 affected generations in pedigree;see GM06946 Fibroblast

characteristic: description

text: IRISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Lipase deficiency

text: Combined

text: GM06945 male affected Lipase deficiency sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND12348 is unaffected father;ND12349 is unaffected mother

text: GERMAN

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11813 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Lipase deficiency

text: 48 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Increased LDL & IDL;skin xanthomata;coronary heart disease & diabetes mellitus;3 affected generations in pedigree;see GM06945A Lymphoblast

text: IRISH

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Lipase deficiency

characteristic: tag

text: Combined

text: GM06946 male affected Lipase deficiency sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 74 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND11819

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11817 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Atrophic vagina and narrow;small uterus

text: proband

text: 46;X;idic(X)(pter->q22::q22->pter).arr Xp22.33q22.3(627-104089072)x3;Xq22.3q28(104089794-154887040)x1;46;X;idic(X)(pter>q22::q22>pter)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Dicentric chromosome

text: GM06960 female unaffected Dicentric chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11820

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11818 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Adenomatous polyposis of the colon

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Polyps;desmoids;fibromas;epidermoid cysts;osteomas;dental abnormalities;& adenomas;skin fibro cult;46;XX;no chromo #2 abnormality seen at P9;12% of cells show random chromo loss/gain;10% of cells are polyploid;see GM07501 Lym

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM06964 female affected Adenomatous polyposis of the colon sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 62 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11817

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11819 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 55 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Polyps;desmoids;fibromas;epidermoid cysts;osteomas;dental abnormalities;and adenomas;affected father;brother;and children;skin fibroblast culture;46;XX;6% of cells show chromosome breaks and 12% show random loss;see GM07499 Lymphoid;donor subject has a 2 bp deletion at nucleotide 4611 in codon 1537 exon 15 of the APC gene (4611_4612delAG) leading to a premature termination at proline 1542 Pro1542Ter (P1542X)

text: mother

text: APC

characteristic: gene

text: CODON 1538

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: APC

characteristic: tag

text: Adenomatous polyposis of the colon

text: GM06965 female affected Adenomatous polyposis of the colon sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND11822.

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Als panel lower-limb onset

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

text: Amyotrophic lateral sclerosis 1

text: ND11821 female affected ALS1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: CF

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Cystic fibrosis & clinically documented nephropathic cystinosis;growth difficulty;recurrent pneumonias;hyponatremia & other electrolyte abnormalities;renal disease;cystine crystals in cornea;46;XY;donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (PHE508DEL) and a second allele carries a G-to-T substitution at nucleotide 406 (406G>T) which converts the glu-92 codon (GAA) to a stop codon (TAA);resulting in a nonsense mutation in exon 4 in the CFTR gene GLU92TER (E92X)

characteristic: description

text: proband

text: CFTR

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM06966 male affected CF sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 54 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11821

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND11822 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 4 MO

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ambiguous genitalia;45%/37%/16%

characteristic: family id

text: proband

text: 45;X 45 /46;X;idic(Y)(qter>p11::p11>qter) 37 /47;X;idic(Y)(qter>p11::p11>qter);idic(Y)(qter>p11::p11>qter) 16

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Dicentric chromosome

text: GM06967 unknown unaffected Dicentric chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND11824 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Obligate carrier;clinically normal;1% of PBL show fra(X) with FudR or MTX;affected uncle and nephew;father is a normal carrier;son is positive for fra (X);Proband is GM07071 Fibroblast;carrier of premutation by Southern analysis;CGG repeats are 107 and 23

text: JEWISH

characteristic: ethnicity

text: mother

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM06968 female unaffected Fmr1 gene sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11824

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND11825 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 20 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;clinically unaffected;mother;sister;& 2 brothers have type I bipolar illness;see GM07398A Fibroblast

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM06972 female unaffected Major affective disorder - 125480 or 309200 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 80 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND11830 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;wife;daughter;and 2 sons have type I bipolar illness;see GM07321 Fibroblast

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM06973 male unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND11839 is unaffected spouse

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11838 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Unspecified psychiatric disorder without hospitalization;mother;sister;and 2 brothers have type I bipolar illness;see GM07320 Fibroblast

characteristic: description

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM06974 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11838

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11839 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Hyperlipoproteinemia type i

text: 10 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Cutaneous xanthomas;hypertriglyceridemia;similarly affected brother;lipoprotein lipase deficiency;no apolipoprotein C-II deficiency;normal cholesterol level;concentration of low & high density lipoproteins is depressed

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Hyperlipoproteinemia type i

text: GM06978 male affected Hyperlipoproteinemia type i sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: ND11858 is proband

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND11857 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 2 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Patient expired at two months of age;multiple congenital anomalies: unusual facies;cleft palate;congenital heart disease;and unusual foot abnormalities;macrocytic anemia;hypersegmented neutrophils;and megaloblastic changes in the marrow

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Tetraploid chromosome number

characteristic: tag

text: GM06979 male unaffected Tetraploid chromosome number sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND11857 is unaffected spouse

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11858 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 13291

text: GM06980 female unaffected Ceph/utah pedigree 13291 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 69 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11863 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 13291

text: GM06981 female unaffected Ceph/utah pedigree 13291 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11863

text: daughter-in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND11864 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1333

text: GM06982 male unaffected Ceph/utah pedigree 1333 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse of proband ND11866

characteristic: description

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11865 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1331

text: GM06983 male unaffected Ceph/utah pedigree 1331 sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: ND11865 is unaffected spouse

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11866 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: Coriell plate

characteristic: DNA id

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

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: culture collection

text: Father Same as 13281-08 and 13293-12

text: UTAH/MORMON

text: father

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

text: Ceph/utah pedigree 1328

text: Coriell GM06984


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: 45 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister-in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND11873 female unaffected Control sample

characteristic: title


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: maternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

text: female

characteristic: sex

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

text: Coriell GM06985


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: 47 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND11874 male unaffected Control sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: Population Description

text: EUR

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandfather

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

characteristic: organism

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: male

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

characteristic: tag

text: Coriell GM06986

characteristic: title


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: 69 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: ND11891 is unaffected spouse

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11879 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother

text: UTAH/MORMON

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1333

text: Snp500 panel

text: GM06987 female unaffected Ceph/utah pedigree 1333 sample


text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11885

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

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

characteristic: tag

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

text: Amyotrophic lateral sclerosis 1

text: ND11883 male affected ALS1 sample

characteristic: title


characteristic: External Id

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: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1331

text: GM06988 female unaffected Ceph/utah pedigree 1331 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND11884 female unaffected Control sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

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: Mother Same as 13281-09 and 13293-13

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: mother

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: female

characteristic: sex

text: Ceph/utah pedigree 1328

text: Coriell GM06989


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND11883

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

characteristic: tag

text: ND11885 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 78 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: ND11884 is unaffected spouse

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND11886 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother;46;XX;donor subject is heterozygous for a C>T change at nucleotide 416 (416C>T) in exon 3 of the CYP2C9 gene (CYP2C9*2) which results in a substitution of cysteine for arginine at codon 144 Arg144Cys (R144C)

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: mother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Cytochrome p450, subfamily iic, polypeptide 9

text: Human variation panel - european caucasian panel of 8

text: Snp500 panel

text: Human variation panel - european caucasian panel of 24

text: Ceph/utah pedigree 1331

text: GM06990 female unaffected Human variation panel - european caucasian panel of 16 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND11888 is unaffected spouse

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11887 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 64 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND11888 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Cytochrome p450, subfamily iic, polypeptide 19

characteristic: tag

text: Ceph/utah pedigree 1341

text: GM06991 female unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11879

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11891 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND11899 is spousal control

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11898 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1331

text: GM06992 male unaffected Ceph/utah pedigree 1331 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: spousal control of proband ND11898

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND11899 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandfather;subsequent to the submission of this sample and the establishment of the cell line;a detailed analysis of HapMap data has shown that the sample is from an unreported relative of another member or members of this panel;as described in Nature 437:1299-1320 (2005). (See Supplementary Table 15 and Supplementary Information on p.12. PMID: 16255080 )

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

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

text: Ceph/utah pedigree 1341

text: GM06993 male unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11902

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

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

text: Amyotrophic lateral sclerosis 1

text: ND11901 female affected Ndpt116 - als panel: caucasians from north america upper-limb onset sample


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

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

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: culture collection

text: Paternal Grandfather

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

characteristic: sex

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

text: Coriell GM06994


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: spousal control of proband ND11901

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

characteristic: tag

text: ND11902 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

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

text: Ceph/utah pedigree 13291

text: GM06995 male unaffected Ceph/utah pedigree 13291 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 13294

text: GM06996 female unaffected Ceph/utah pedigree 13294 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 13291

text: GM06997 female unaffected Ceph/utah pedigree 13291 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

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

text: Amyotrophic lateral sclerosis 1

text: ND11913 female affected ALS1 sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 13292

characteristic: tag

text: GM06998 male unaffected Ceph/utah pedigree 13292 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND11920 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1331

text: GM06999 female unaffected Ceph/utah pedigree 1331 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 64 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: unaffected spouse of proband ND11922

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11921 female unaffected Population/convenience control sample


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission model

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: Paternal Grandmother

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: female

characteristic: sex

text: Coriell GM07000


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11921

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

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

characteristic: tag

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

text: Amyotrophic lateral sclerosis 1

text: ND11922 male affected ALS1 sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 13292

text: GM07001 male unaffected Ceph/utah pedigree 13292 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Als panel upper-limb onset definite and probable

text: Amyotrophic lateral sclerosis 1

text: ND11923 female affected ALS1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother;culture grows slowly

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1333

text: GM07002 female unaffected Ceph/utah pedigree 1333 sample


text: Coriell

text: live

text: Generic

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND11923

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

characteristic: tag

text: ND11924 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

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 13292

text: GM07003 female unaffected Ceph/utah pedigree 13292 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND11931

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND11927 female unaffected Neurologically normal caucasian control panel sample


characteristic: External Id

text: Coriell

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

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1333

text: GM07004 male unaffected Ceph/utah pedigree 1333 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND11931 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1331

text: GM07005 female unaffected Ceph/utah pedigree 1331 sample


text: Coriell

characteristic: INSDC center name

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: Female

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND11937 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

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

text: GM07006 female unaffected Ceph/utah pedigree 1341 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND11937

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND11940 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

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 1340

text: GM07008 male unaffected Ceph/utah pedigree 1340 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND11957 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1333

text: GM07009 male unaffected Ceph/utah pedigree 1333 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND11960 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

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: GM07010 female unaffected Ceph/utah pedigree 1341 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND11961 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC last update

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: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1333

text: GM07011 female unaffected Ceph/utah pedigree 1333 sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND11966 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1341

text: GM07012 female unaffected Ceph/utah pedigree 1341 sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 35 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND11976

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND11974 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father;Brother of 13292-02

text: UTAH/MORMON

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 13294

characteristic: tag

text: GM07013 male unaffected Ceph/utah pedigree 13294 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband is ND11974

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND11976 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother;Sister of 13294-01

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

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

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

text: Ceph/utah pedigree 13292

text: GM07014 female unaffected Ceph/utah pedigree 13292 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND11994 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 13294

text: GM07015 male unaffected Ceph/utah pedigree 13294 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND12001 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandfather

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1331

characteristic: tag

text: GM07016 male unaffected Ceph/utah pedigree 1331 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 61 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

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

text: Amyotrophic lateral sclerosis 1

text: ND12008 female affected ALS1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Maternal Grandfather

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1333

text: GM07017 male unaffected Ceph/utah pedigree 1333 sample


text: Coriell

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12013

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Als panel lower-limb onset

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

text: Amyotrophic lateral sclerosis 1

text: ND12011 male affected ALS1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 13291

text: GM07018 male unaffected Ceph/utah pedigree 13291 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse is ND12014

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12012 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission model

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Human variation panel - european caucasian panel of 8

characteristic: tag

text: Cytochrome p450, subfamily iic, polypeptide 19

text: Human variation panel - european caucasian panel of 24

text: Ceph/utah pedigree 1340

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

text: GM07019 female unaffected Human variation panel - european caucasian panel of 16 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spousal control of proband ND12011

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND12013 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1341

text: GM07020 male unaffected Ceph/utah pedigree 1341 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: ND12012 is affected spouse

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND12014 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

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 1341

characteristic: tag

text: GM07021 male unaffected Ceph/utah pedigree 1341 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12016

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12015 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

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 Grandfather;subsequent to the submission of this sample and the establishment of the cell line;a detailed analysis of HapMap data has shown that the sample is from an unreported relative of another member or members of this panel;as described in Nature 437:1299-1320 (2005). (See Supplementary Table 15 and Supplementary Information on p.12. PMID: 16255080 )

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

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

text: Ceph/utah pedigree 1340

text: GM07022 male unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND12015

characteristic: description

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND12016 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1331

text: GM07023 female unaffected Ceph/utah pedigree 1331 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: ND12026 is unaffected spouse

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND12025 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son;46;XY;2% of cells showing random chromosome loss

text: UTAH/MORMON

text: son

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 13294

text: GM07024 male unaffected Ceph/utah pedigree 13294 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND12026 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 13293

text: GM07025 female unaffected Ceph/utah pedigree 13293 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 79 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12055

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND12051 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1333

characteristic: tag

text: GM07026 male unaffected Ceph/utah pedigree 1333 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND12056

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12053 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1340

text: GM07027 male unaffected Ceph/utah pedigree 1340 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12057

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12054 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 13293

text: GM07028 male unaffected Ceph/utah pedigree 13293 sample