text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 44 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Developed intra-abdominal carcinomatosis 1 year after prophylactic bilateral oophorectomy at age 42;1 relative with breast cancer and 3 relatives with ovarian cancer;BRCA1 germline mutation is 1294del40 in exon 11;codons 392-405

text: 40-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: Breast cancer type 1

text: GM14094 female affected Breast cancer information core (bic) brca1/brca2 mutation panel dna samples sample

characteristic: title


status: PUBLIC

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: Epilepsy

tag: attribute

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND24947 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Breast cancer type 1

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed with breast cancer and prostate cancer at age 59;5 relatives with breast cancer and 2 relatives with ovarian cancer;BRCA1 germline mutation is 5256delG in exon 18 results in a truncation at codon 1713 (V1713X)

characteristic: description

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Breast cancer type 1

text: GM14095 male affected Breast cancer type 1 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 0 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24948 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Breast cancer type 1

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 40;2 relatives with breast cancer & 3 relatives with ovarian cancer;BRCA1 germline mutation is 3600del11 in exon 11 resulting in a frameshift and truncation at codon 1163 (T1161fsX1163)

text: Homo sapiens

text: Caucasian

text: Female

text: Breast cancer type 1

text: GM14096 female affected Breast cancer type 1 sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

text: ND24958 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Breast cancer type 1

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ovarian cancer at age 46;1 relative with breast cancer and 1 relative with ovarian cancer;BRCA1 germline mutation is Cys61Gly in exon 5;codon 61

characteristic: description

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Breast cancer type 1

text: GM14097 female affected Breast cancer type 1 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 18 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24959 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Ataxia-telangiectasia

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 7;telangiectasias of ears;eyes;& back of neck since age 7;elevated serum AFP;normal IgA;IgE;& IgG;similarly affected sister

text: ENGLISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM14100 male affected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND24961 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Ataxia-telangiectasia

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 5;ear & eye telangiectasias since age 5;elevated serum AFP;reduced IgA;normal IgE;& elevated IgG

characteristic: description

text: ENGLISH

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: GM14101 female affected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND24964 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Kallmann syn

text: 44 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Bilateral cleft lip and palate;hypogonadism and hypopituitarism;anosmia;hypermobile joints especially knees;brother has same clinical features except for cleft lip and palate;family history;molecular analysis detects no deletion in Kallman critical region on X

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Hypogonadotropic hypogonadism, anosmia - 147950, 244200, 308700

text: Kallmann syn

text: GM14106 male affected Kallmann syn sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND24965 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Glycogen storage disease ii

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;Eurasian;donor subject is a compound heterozygote: one allele has a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (c.-32-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon;exon 2;the second allele has a 1 bp deletion at nucleotide 525 in exon 2 (c.525delT) resulting in a frameshift and premature termination of the protein Glu176fsX45)

text: GAA

characteristic: gene

characteristic: mutation

text: T>G

text: 1-BP DEL

text: Homo sapiens

characteristic: organism

text: Other

text: Female

text: Glycogen storage disease ii

text: GM14108 female affected Glycogen storage disease ii sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Other

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

text: ND24970 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Similarly affected mother expired at age 54;onset at age 62;generalized weakness and atrophy;slurred speech;no cramps;legs showed atrophy;spasticity;and rigidity;fasciculations;SSCP analysis and sequencing of SOD-1 was normal for this line

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: GM14109 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Other

text: Female

text: ND24971 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 5 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 1.5;telangiectasias since age 4;elevated serum AFP;recurrent sinus infections

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM14134 male affected Ataxia-telangiectasia sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND24978 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Williams-beuren syndrome

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;feeding difficulty;failure to thrive;overly friendly personality;short attention span;hyperacusis;anxiety;visuo-spatial problems;hyperverbal speech;good long-term memory;motor delay;language delay;epicanthal folds/flat nasal bridge;strabismus;small;widely-spaced teeth;periorbital fullness;stellate iris pattern;prominent lips;malocclusion;cardiac murmur;long trunk;long neck/sloped shoulders;joint limitation;abnormal gait;premature graying;soft/velvety skin;strong attraction to music/perfect pitch;early puberty;preoccupation with spinning/rhythmic movements

text: 46;XX.ish del(7)(pter>q11.23::q11.23>qter)(ELN-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM14137 female affected Williams-beuren syndrome sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

text: ND24979 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: AT

text: 17 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT311AIV1;diagnosed at eight years of age;one allele carries a C-to-T transition (CAG>TAG) at nucleotide 5293 (5293C>T) which converts the gln-1765 codon in exon 37 of the ATM gene to a nonsense codon GLN1765TER (Q1765X) .

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM14138 male affected AT sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: More than one race

text: Male

text: Epilepsy

characteristic: tag

text: ND24980 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Orofacial cleft 1 ofc1

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Unilateral right cleft lip & cleft palate;negative family history

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Orofacial cleft 1 ofc1

text: GM14140 male affected Orofacial cleft 1 ofc1 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND24981 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Ataxia-telangiectasia

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 8;elevated serum AFP;walker-dependent at age 9.5;reduced IgA & IgE;normal IgG;& elevated IgM;chromosomes show increased structural abnormalities;lymphoblasts show increased sensitivity to ionizing radiation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: GM14142 female affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24982 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Ataxia-telangiectasia

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 15 mo;eye & ear telangiectasias since age 3;began using a wheelchair at age 8;elevated serum AFP;chronic sinusitis & recurrent pulmonary infections;reduced IgA & IgE;brother is also affected

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM14152 female affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

characteristic: tag

text: ND24983 female affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 15 months;eye and ear telangiectasias since age 3;began using a wheelchair at age 7;elevated serum AFP;reduced IgA;normal IgE;IgG;and IgM;on prophylactic TMP-SMX for low T cell counts

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM14153 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND24987 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Basal cell nevus syndrome

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Palmar & plantar pits;jaw cysts;calcified falx;bifid rib;oophorectomy secondary to ovarian cysts;unilateral cleft lip & palate;negative family history for BCNS & clefting

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: BCNS

text: Basal cell nevus syndrome

text: GM14155 female affected Basal cell nevus syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND24988 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 29 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Duplicated right thumb

text: HISPANIC

characteristic: ethnicity

text: proband

text: 47;XX;+r(16).ish r(16)(D16Z1+) 27 /48;XX;+r(1).ish r(1)(D1Z5+);+r(16).ish r(16)(D16Z1+) 15 /47;XX;+r(1).ish r(1)(D1Z5+) 2 )/46;XX 6

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ring chromosome

text: GM14157 female unaffected Ring chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Progressive supranuclear palsy

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Progressive supranuclear palsy

text: ND24989 male affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: AT

text: 2 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT414AIV2;clinically affected;diagnosed at one year of age;elevated serum AFP (78.2;normal range is 0-8.9);low IgA & IgG;the maternal allele of the ATM gene contains a one bp insertion at nucleotide 5712 (5712 insA) at codon 1904 in exon 40 which results in a frameshift and a truncated protein.

text: ATM

characteristic: gene

text: 5712 insA

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM14158 male affected AT sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND24990 female unaffected Population/convenience control sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Williams-beuren syndrome

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;feeding difficulty;vomiting/GE reflux;failure to thrive;prolonged colic;overly friendly personality;short attention span;hyperacusis;anxiety;visuo-spatial problems;hyperverbal speech;good long-term memory;motor delay;language delay;bitemporal narrowing;epicanthal folds/flat nasal bridge;strabismus;short nose/anteverted nares;small;widely-spaced teeth;periorbital fullness;medial eyebrow flare;stellate iris pattern;bulbous/full nasal tip;prominent lips;malocclusion;supravalvular aortic stenosis;peripheral pulmonic stenosis;cardiac defects;hypertension;hoarse voice;long trunk;inguinal hernia;joint limitation;abnormal gait;hypercalcemia;hallux valgus;sacral crease;soft/velvety skin;frequent urination/delayed urinary continence;strong attraction to music/perfect pitch;early puberty;prominent veins/muscles;preoccupation with spinning/rhythmic movements

characteristic: description

characteristic: family id

text: proband

text: 46;XY.ish del(7)(pter>q11.23::q11.23>qter)(ELN-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM14162 male affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

text: ND24994 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 55 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX with 2% random chromosome loss;mother of GM14162

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM14163 female unaffected Williams-beuren syndrome sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND24996 male affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Chromosome deletion

text: 6 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Growth retardation;hypoplastic thumbs and 1st fingers;hypertelorism;tetralogy of Fallot

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Copy number variation (cnv) reference panel

text: Chromosome deletion

text: Tetralogy of fallot

text: GM14164 female affected Chromosome deletion sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24997 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Cleft palate

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Cleft palate;bilat undescended testes;bilateral shoulder girdle and elbow contractures;congenital shortening of right femur;coxa vara;ankyloglossia;lordosis-scoliosis;short stature;long thin upper lip-cupids bow;normal IQ

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Cleft palate

text: Syndromic

text: GM14165 male affected Cleft palate sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND25001 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: AT

text: 18 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 18 mo;telangiectasias of eyes;ears;back of neck;and face since age 18 mo;began using a wheelchair and wheelchair-dependent since age 12 yr;the donor subject is a compound heterozygote: one allele has a 1 bp insertion at nucleotide 6998 in exon 50 of the ATM gene (6998insA) resulting in a frameshift at codon 2333 and a truncation (Y2333fsX);the second allele has a G>A change in intron 62 (IVS62+1G>A) resulting in the skipping of exon 62;a frameshift at codon 2891 and a truncation (G2891fsX)

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM14169 male affected AT sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND25008 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Breast cancer 2, early-onset

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Fallopian tube cancer;family history includes mother with ovarian cancer and 2 second degree relatives with breast cancer;the germline mutation is a 1bp deletion at nucleotide 6174 (6174delT) in exon 11 resulting in a frameshift beginning at codon 1982 and terminating at codon 2003 (S1982fsX2003)

characteristic: description

characteristic: karyotype

text: 1-BP DEL

text: FS

text: Homo sapiens

text: Caucasian

text: Female

text: Breast cancer information core (bic) brca1/brca2 mutation panel dna samples

text: Breast cancer 2, early-onset

text: GM14170 female affected Breast cancer 2, early-onset sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND25012 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Williams-beuren syndrome

text: 38 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Vomiting;constipation;short attention span;visuo-spatial problems;hyperverbal speech;motor delay;mitral valve prolapse with enlarged heart;abnormal gait;perfect pitch;preoccupation with spinning/rhythmic movements

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Williams-beuren syndrome

text: WBS

text: GM14171 male affected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND25013 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;mother of GM14171

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM14172 female unaffected Williams-beuren syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND25014 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 68 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;father of GM14171

characteristic: description

text: father

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM14173 male unaffected Williams-beuren syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND25015 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 12 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;downslanting palpebral fissures;hypopigmented swirls;cryptorchidism;synophrys;simian crease;see GM14175 Fibroblast

text: HISPANIC

characteristic: ethnicity

text: proband

text: 46;XY{2}/47;XY;psu dic(9)(9pter>9q12:: 9q12>9pter).ish psu dic(9)(wcp9+){98};47;XY;+psu dic(9)(9pter>9q12:: 9q12>9pter).ish psu dic(9)(wcp9+) 49 /46;XY 1

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM14174 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tourette syndrome

text: ND25016 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;downslanting palpebral fissures;hypopigmented swirls;cryptorchidism;synophrys;simian crease;46;XY;see GM14174 Lymphoid;lymphoblasts karyotype is 46;XY{2}/47;XY;psu dic(9){98}

text: HISPANIC

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Dicentric chromosome

characteristic: tag

text: GM14175 male unaffected Dicentric chromosome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND25018 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Williams-beuren syndrome

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Failure to thrive;prolonged colic;hypervariable speech;good long-term memory;visuo-spatial problems;characteristic facial features;cardiovascular defects;hypercalcemia in childhood;abnormal gait;hoarse voice;strong attraction to music/perfect pitch

characteristic: description

characteristic: family id

text: proband

text: 46;XY.ish del(7)(pter>q11.23::q11.23>qter)(ELN-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM14182 male affected Williams-beuren syndrome sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 10 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND25020 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;father of GM14182

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Williams-beuren syndrome

text: WBS

text: GM14183 male unaffected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND25021 male affected Epilepsy sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Williams-beuren syndrome

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Failure to thrive;prolonged colic;hyperverbal speech;good long-term memory;motor & language delay;charac facial features;supravalvular aortic/pulmonic stenosis;abnor gait;joint limitation;strong attraction to music/perfect pitch

text: 46;XY.ish del(7)(q11.23q11.23)(ELN-) 54 /46;XY;t(4;20)(4pter>4q25::20q13.3::20qter;20pter>20q13.3::4q25>4qter).ish del(7) (q11.23q11.23)(ELN-) 46

text: Homo sapiens

text: Caucasian

text: Male

text: Williams-beuren syndrome

text: WBS

text: GM14184 male affected Williams-beuren syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND25022 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 8 MO

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Dysmorphic facies;skull asymmetry;hydronephrosis;cortical atrophy

characteristic: description

text: HISPANIC

characteristic: ethnicity

text: 46;XX;del(22)(pter>q13:).ish del(22)(Tuple1+;ARSA-;wcp11-;VIJ22072-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM14239 female affected Copy number variation (cnv) refernece panel 02 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: White/Caucasian | American Indian/Alaska Native

text: sibling

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Female

text: Epilepsy

text: ND25023 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Glycogen storage disease ii

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;donor subject is a compound heterozygote: one allele has a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (c.-32-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon;exon 2;the second allele has a 1 bp deletion at nucleotide 525 in exon 2 (c.525delT) resulting in a frameshift and premature termination of the protein Glu176fsX45)

text: GAA

characteristic: gene

characteristic: mutation

text: T>G

text: 1-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Glycogen storage disease ii

characteristic: tag

text: GM14242 female affected Glycogen storage disease ii sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: More than one race

text: Male

text: Epilepsy

text: ND25024 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Orofacial cleft 1 ofc1

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Right cleft lip & cleft palate;history of high cholesterol level & high blood pressure;has had double bypass & angioplasty;positive family history for clefting

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Orofacial cleft 1 ofc1

text: GM14243 male affected Orofacial cleft 1 ofc1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

characteristic: organism

text: African American

characteristic: race

text: Female

text: ND25025 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Severe mental retardation with no speech

text: 47;XY;+der(22)(22pter>22q11.2::11q23>11qter).ish der(22)(wcp11+;wcp22+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Aneuploid chromosome number - trisomy

text: Copy number variation (cnv) refernece panel 02

text: GM14258 male unaffected Aneuploid chromosome number - trisomy sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND25026 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 30 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;small ears with left ear measuring 45 mm and right ear measuring 47 mm;prominent micrognathia;height = 61 inches;weight = 117 pounds;head circumference = 57.5 cm;paracentric inversion of 4q;2 of 3 children also affected. --

text: 46;XX;inv(4)(pter>q34.2::q35.2>q34.2::q35.2>qter).ish inv(4) (D4S2930+)

text: Homo sapiens

text: Caucasian

text: Female

text: Inverted chromosome

text: GM14266 female unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

text: ND25030 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX;mother of GM14268

characteristic: description

text: mother

text: 46;XX.ish 7q11.23(ELNx2)

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM14267 female unaffected Williams-beuren syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND25032 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Williams-beuren syndrome

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Failure to thrive;feeding difficulty;short attention span;visuo-spatial problems;hyperverbal speech;motor delay;epicanthal folds;supravalvular aortic and pulmonic stenosis;joint limitation;perfect pitch;soft velvety skin

text: proband

text: 46;XX.ish del(7)(pter>q11.23::q11.23>qter)(ELN-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Williams-beuren syndrome

characteristic: tag

text: WBS

text: GM14268 female affected Williams-beuren syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 8 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: White/Caucasian | American Indian/Alaska Native

text: sibling

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

text: ND25033 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Obesity

text: 36 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 50;319 pounds

text: Homo sapiens

text: Black

text: Female

text: Obesity

text: GM14274 female affected Obesity sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: FAMILY HISTORY OF MS

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND25034 female affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Obesity

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 50;306 pounds;arthritis;family history of obesity

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Obesity

text: GM14275 female affected Obesity sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND25035 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Obesity

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;400 pounds;bad hips;mother and grandmother are obese;mother is GM14278

text: proband

text: Homo sapiens

text: Black

text: Female

text: Obesity

text: GM14277 female affected Obesity sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND25043 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Obesity

text: 40 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index > 50;330 pounds;elevated cholesterol;hypertension;arthritis;heart disease;mother and daughter are obese;daughter is GM14277

characteristic: description

text: mother

text: Homo sapiens

text: Black

text: Female

text: Obesity

text: GM14278 female affected Obesity sample


text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND25051 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Obesity

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;480 pounds;elevated cholesterol;hypertension;diabetes;varicose veins

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Obesity

text: GM14279 male affected Obesity sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND25052 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Obesity

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;382 pounds;hypertension;heart disease

text: Homo sapiens

text: Black

text: Female

text: Obesity

text: GM14280 female affected Obesity sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 74 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND25053 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Obesity

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;441 pounds;no siblings with weight problems

characteristic: description

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: Obesity

text: GM14281 female affected Obesity sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Progressive supranuclear palsy

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND25058 female affected Progressive supranuclear palsy sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Obesity

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;486 pounds;2 of 4 children are over 200 pounds

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Obesity

text: GM14282 female affected Obesity sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND25059 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Obesity

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;335 pounds;asthma;heart disease;mother of 9 year old child with BMI of 30

text: Homo sapiens

text: Black

text: Female

text: Obesity

text: GM14283 female affected Obesity sample


text: Coriell

text: live

text: Generic

text: 41 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND25060 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Obesity

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index > 50;350 pounds;elevated cholesterol;multiple fractures

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Obesity

text: GM14286 male affected Obesity sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND25061 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Obesity

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;363 pounds;hepatitis;gallbladder disease

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Obesity

text: GM14287 female affected Obesity sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Asian

text: Male

characteristic: sex

characteristic: tag

text: ND25069 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Obesity

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;376 pounds;hypertension;arthritis;heart disease;irregular menses

text: Homo sapiens

text: Black

text: Female

text: Obesity

text: GM14288 female affected Obesity sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 1 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

text: ND25070 female affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Obesity

text: 67 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;296 pounds;diabetes;hypertension;gallbladder disease;arthritis;heart disease;in wheelchair

characteristic: description

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Obesity

text: GM14289 female affected Obesity sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 4 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND25071 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Obesity

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;330 pounds;irregular menses

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Obesity

text: GM14290 female affected Obesity sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND25073 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Williams-beuren syndrome

text: 11 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Failure to thrive;vomiting;colic;constipation;short attention span;visuo-spatial problems;epicanthal folds;floppy mitral valve;joint limitation;abnor gait;soft/velvety skin;perfect pitch;preoccupied with spinning

text: proband

text: 46;XX.ish del(7)(pter>q11.23::q11.23>qter)(ELN-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM14291 female affected Williams-beuren syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 38 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: Epilepsy

text: ND25074 female affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;16qh+;mother of GM14291

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM14292 female unaffected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: More than one race

text: Female

text: ND25082 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Obesity

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 50;331 pounds;arthritis;varicose veins;irregular menses;bulimic;family history of heart disease;diabetes;and varicose veins

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Obesity

characteristic: tag

text: GM14293 female affected Obesity sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 26 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND25085 female affected Tourette syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Obesity

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 50;375 pounds;arthritis;kidney stones;family history of obesity;heart disease;kidney stones;and hypertension

text: Homo sapiens

text: Caucasian

text: Male

text: Obesity

text: GM14294 male affected Obesity sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 7 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25086 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;mother of GM14297

characteristic: description

text: mother

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM14295 female unaffected Williams-beuren syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25087 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 71 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;father of GM14297

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Williams-beuren syndrome

characteristic: tag

text: WBS

text: GM14296 male unaffected Williams-beuren syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 12 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25088 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Williams-beuren syndrome

text: 32 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Failure to thrive;vomiting;colic;constipation;short attention span;visuo-spatial problems;epicanthal folds;abnormal gait;soft/velvety skin;perfect pitch;preoccupation with spinning;motor and language delay

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Williams-beuren syndrome

text: WBS

text: GM14297 female affected Williams-beuren syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25089 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Obesity

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 50;290 pounds;hypoparathyroidism;bulimia;malabsorption;family history of obesity;heart disease;and gallbladder disease

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Obesity

text: GM14299 female affected Obesity sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25090 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Obesity

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 50;368 pounds;hypertension;family history of obesity;arthritis;and hypertension

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Obesity

characteristic: tag

text: GM14300 female affected Obesity sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 33 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND25099 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Obesity

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 50;347 pounds;asthma;heart disease;family history of obesity and heart disease

text: Homo sapiens

text: Black

text: Female

text: Obesity

text: GM14301 female affected Obesity sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 31 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25100 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Obesity

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 50;389 pounds;diabetes;enteritis;hypertension;hyperthyroidism;family history of diabetes and hyperthyroidism;obese spouse & son are GM14303 and GM14304;respectively

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Obesity

text: GM14302 female affected Obesity sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND25101 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Obesity

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 50;400 pounds;diabetes;arthritis;hypertension;family history of diabetes;obesity;and hypertension;obese spouse and son are GM14302 and GM14304;respectively

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Obesity

text: GM14303 male affected Obesity sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND25104 female affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Obesity

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;257 pounds;family history of diabetes and hypertension;obese mother and father are GM14302 and GM14303;respectively

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Obesity

text: GM14304 male affected Obesity sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 14 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

text: ND25105 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Obesity

text: 28 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index > 50;350 pounds;irregular menses;2 brothers and father over 300 pounds

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Obesity

text: GM14347 female affected Obesity sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

text: Epilepsy

text: ND25106 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Obesity

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;298 pounds

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: Obesity

text: GM14348 male affected Obesity sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

text: ND25110 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Obesity

text: 30 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;348 pounds;obese half-sister is GM14350

text: proband

text: Homo sapiens

text: Black

text: Female

text: Obesity

characteristic: tag

text: GM14349 female affected Obesity sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND25111 female affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Obesity

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;300 pounds;asthma;varicose veins;obese half-sister is GM14349

text: half-sister

text: Homo sapiens

text: Black

text: Female

text: Obesity

text: GM14350 female affected Obesity sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: English;Scottish;German

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND25123 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Obesity

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;400 pounds

characteristic: description

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Obesity

text: GM14351 male affected Obesity sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinsonism, other

text: 84 YR

text: B-Lymphocyte

text: NINDS Repository

text: Scottish;German

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Progressive supranuclear palsy

text: Parkinsonism, other

text: ND25124 male affected Parkinsonism, other sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Obesity

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;338 pounds

text: Homo sapiens

text: Black

text: Female

text: Obesity

characteristic: tag

text: GM14352 female affected Obesity sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Progressive supranuclear palsy

text: 67 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND25125 female affected Progressive supranuclear palsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Obesity

text: 38 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index > 50;430 pounds;varicose veins

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Obesity

text: GM14353 male affected Obesity sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: husband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND25126 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Obesity

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;348 pounds;family history of obesity

characteristic: description

text: BLACK/CAUCASIAN

text: Homo sapiens

text: More than one race

characteristic: race

text: Female

text: Obesity

text: GM14354 female affected Obesity sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND25137 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Obesity

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;394 pounds;hypertension;arthritis;varicose veins;family history of diabetes;hypertension;varicose veins;and heart disease

text: HISPANIC

text: Homo sapiens

text: Caucasian

text: Male

text: Obesity

characteristic: tag

text: GM14358 male affected Obesity sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25139 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Obesity

text: 43 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index > 50;442 pounds;varicose veins;family history of obesity

text: Homo sapiens

text: Caucasian

text: Male

text: Obesity

text: GM14359 male affected Obesity sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: ethnicity

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25143 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Obesity

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;446 pounds;family history of obesity

characteristic: description

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: Obesity

text: GM14360 male affected Obesity sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND25145 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Obesity

text: 22 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;341 pounds

text: Homo sapiens

text: Caucasian

text: Female

text: Obesity

characteristic: tag

text: GM14361 female affected Obesity sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND25147 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Obesity

text: 21 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index > 50;260 pounds;bulimia;hypertension;multiple fractures;family history of obesity;diabetes;and hypertension

text: Homo sapiens

text: Caucasian

text: Female

text: Obesity

text: GM14362 female affected Obesity sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND25153 female affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Obesity

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 50;488 pounds;kidney stones;asthma;arthritis;family history of obesity and lung disease

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Obesity

text: GM14363 female affected Obesity sample


text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND25158 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Obesity

text: 25 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;606 pounds;asthma;family history of diabetes

text: Homo sapiens

text: Black

text: Male

text: Obesity

text: GM14364 male affected Obesity sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND25159 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Obesity

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;270 pounds;has a sister over 400 pounds

text: Homo sapiens

text: Black

text: Female

text: Obesity

text: GM14371 female affected Obesity sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND25160 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Obesity

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;307 pounds;cholecystectomy;arthritis;diabetes;hysterectomy

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Obesity

text: GM14372 female affected Obesity sample


text: Coriell

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND25161 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Obesity

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;370 pounds;bulimia;irregular menses;family history of diabetes and hypertension

characteristic: description

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Obesity

text: GM14373 female affected Obesity sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 47 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25162 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Obesity

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;375 pounds

text: Homo sapiens

text: Black

text: Female

text: Obesity

text: GM14374 female affected Obesity sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND25163 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Obesity

text: 22 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 50;345 pounds;asthma

text: Homo sapiens

text: Black

text: Female

text: Obesity

text: GM14375 female affected Obesity sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: ash j

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25164 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 21;114 pounds;family history of diabetes;monozygotic twin sister is GM14382;monozygotic using 28 STRs

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy individuals with a body mass index (bmi) within normal range

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14381 female unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 47 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: ash j

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND25165 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 20;111 pounds;family history of diabetes;monozygotic twin sister is GM14381;monozygotic using 28 STRs

text: twin sister

text: Homo sapiens

text: Caucasian

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14382 female unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: ash j

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND25166 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Obesity

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index > 50;254 pounds;elevated cholesterol;asthma;arthritis;family history of obesity;asthma;hyptension;and heart disease;bulimia

text: Homo sapiens

text: Caucasian

text: Female

text: Obesity

text: GM14383 female affected Obesity sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND25167 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Obesity

text: 62 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;400 pounds;elevated cholesterol;hypertension;cholecystectomy;arthritis;heart disease;hypothyroidism;family hx of obesity and hypertension;two brothers died of heart attacks at young ages

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Obesity

text: GM14384 female affected Obesity sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 18 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

text: ND25168 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Obesity

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;453 pounds;elevated cholesterol;asthma;family history of diabetes;arthritis and circulation problems;binges

text: Homo sapiens

text: Caucasian

text: Male

text: Obesity

text: GM14385 male affected Obesity sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 17 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25169 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Obesity

text: 19 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;550 pounds;family history of diabetes;hypertension;and heart disease

text: Homo sapiens

text: Black

text: Female

text: Obesity

characteristic: tag

text: GM14386 female affected Obesity sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND25170 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Obesity

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;276 pounds;elevated cholesterol;hypertension;had a knee replacement;arthritis;family hx of obesity;diabetes;elevated cholesterol;hypertension;kidney stones;arthritis;and heart disease

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Obesity

text: GM14387 female affected Obesity sample


text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND25171 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Obesity

text: 54 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;303 pounds;asthma;osteoporosis;arthritis;diabetes;family history of obesity;hypertension;osteoporosis;arthritis;diabetes;and asthma

characteristic: description

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Obesity

text: GM14388 female affected Obesity sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25172 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Obesity

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index > 50;308 pounds;gestational diabetes;elevated cholesterol;spider veins;father had a heart attack;mother has spider veins also;binge eating

text: Homo sapiens

text: Caucasian

text: Female

text: Obesity

text: GM14389 female affected Obesity 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: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND25179 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Glycogen storage disease ii

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;adult onset;donor subject is a compound heterozygote: one allele has a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (IVS1-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon;exon 2;the second allele has a G>A transition at nucleotide 925 in exon 5 (c.925G>A) resulting in the substitution of arginine for glycine at codon 309 Gly309Arg (G309R)

text: GAA

characteristic: gene

characteristic: mutation

text: T>G

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease ii

characteristic: tag

text: GM14393 male affected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish - him and mom

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND25187 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 6 MO

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX{12}/47;XX;+r(1){14}/47;XX;+r(16) {34}/48;XX;+r(1);+r(16){40}.ish r(1) (D1Z5+);+r(16).ish r(16)(D16Z2+)

characteristic: description

text: HISPANIC

text: twin sister

text: 48;XX;+r(1);+r(16) 40 /47;XX;+r(1) 14 /47;XX;+r(16) 34 /46;XX 12 .ish r(1) (D1Z5+);r(16)(D16Z2+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ring chromosome

text: GM14396 female unaffected Ring chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ashkenazi Jewish - self;mom and dad

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25188 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 22;121 pounds;monozygotic twin sister is GM14406;monozygotic using 28 STRs

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy individuals with a body mass index (bmi) within normal range

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14405 female unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish - him and mom

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND25189 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 26;136 pounds;monozygotic twin sister is GM14405;monozygotic using 28 STRs

text: twin sister

text: Homo sapiens

text: Caucasian

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14406 female unaffected Monozygotic twin pairs sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND25191 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Glycogen storage disease ii

text: 20 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;moderate myopathy;mild cardiomyopathy;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 871 of the GAA gene (c.871C>T) resulting in the substitution of phenylalanine for leucine at codon 291 Leu291Phe (L291F);the second allele has a T>C transition at nucleotide 1441 in exon 10 (c.1441T>C) resulting in the substitution of arginine for tryptophan at codon 481 Trp481Arg (W481R)

characteristic: description

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease ii

text: GM14407 male affected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25194 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 26;144 pounds;monozygotic twin brother is GM14409;monozygotic using 28 STRs

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14408 male unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND25195 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 58 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 23;129 pounds;monozygotic twin brother is GM14408;monozygotic using 28 STRs

text: twin brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14409 male unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND25199 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Glycogen storage disease ii

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;adult onset;donor subject is a compound heterozygote: one allele has a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (IVS1-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon;exon 2;the second allele has a G>A transition at nucleotide 925 in exon 5 (c.925G>A) resulting in the substitution of arginine for glycine at codon 309 Gly309Arg (G309R)

characteristic: description

text: GAA

characteristic: gene

characteristic: mutation

text: T>G

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease ii

text: GM14411 female affected Glycogen storage disease ii sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 28 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25200 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 23;137 pounds;monozygotic twin brother is GM14417;monozygotic using 28 STRs

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14414 male unaffected Monozygotic twin pairs sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 14 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND25201 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 26;139 pounds;monozygotic twin brother is GM14414;monozygotic using 28 STRs

text: twin brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy individuals with a body mass index (bmi) within normal range

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14417 male unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND25204 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 29 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND25205 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Glycogen storage disease ii

text: 31 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;adult onset;donor subject is a compound heterozygote: one allele has a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (IVS1-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon;exon 2;the second allele has an A>C transversion at nucleotide 923 in exon 5 (c.923A>C) resulting in the substitution of proline for histidine at codon 308 His308Pro (H308P)

characteristic: description

text: GAA

characteristic: gene

characteristic: mutation

text: T>G

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease ii

text: GM14423 female affected Glycogen storage disease ii sample