text: Coriell

text: live

text: Generic

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;nocturnal enuresis;azotemia;BUN 46 (elevated);creatinine 1.0 (normal);evidence of renal problems;profound postural hypotension but becoming less frequent;tongue thrusting;vomiting crises have strong psychological component;alacrima;no strabismus;corneal reflexes are present;color blindness;red-green deficiency;mild Horner's syndrome due to blow-out fracture of left orbit;esophagitis;loss in weight;sexual immaturity;slight decrease of vibration sense in all extremities;absent deep tendon reflexes;50% error in left arm for determination of sharp vs. dull;unable to discriminate between hot and cold;can not smell with left nostril;moderate decrease in pain sensation;abnormal EEG;proteinuria and hematuria;right thoracic scoliosis;kyphosis;spina bifida occulta;no cyanosis;affected brother is GM09296;unaffected siblings are GM09298;GM09302;mother is GM09764.

characteristic: description

text: ASHKENAZI

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM09297 male affected Neuropathy, hereditary sensory and autonomic type iii sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 69 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND16358 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;2 affected siblings are GM09296 and GM09297.

characteristic: description

text: ASHKENAZI

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM09298 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND16361 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;weight loss;mild anemia;vomiting crises;alacrima;spinal fusion;bilateral tibial torsion;azotemia;creatinine values range from 1.3-1.5;orthostatic hypotension;decreased muscle bulk in lower extremities;hematuria;affected brother is GM09295;unaffected sister is GM09294;mother is GM09300;father is GM09301.

text: ASHKENAZI

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM09299 female affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Progressive supranuclear palsy

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND16375 female affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected children are GM09295 and GM09299.

text: ASHKENAZI

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM09300 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: ND16376 male unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: description

text: ASHKENAZI

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM09301 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND16381 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: ASHKENAZI

characteristic: ethnicity

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM09302 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 54 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: ND16382 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;father & sister are affected

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Neurofibromatosis type ii

text: GM09306 male unaffected Neurofibromatosis type ii sample


text: Coriell

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Ash jewish

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND16385 female unaffected Population/convenience control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Fmr1 gene

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;fra(X)(q27);Y in 6% of PBL;institutionalized;mild mental retardation;affected male by Southern analysis

characteristic: description

text: brother

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM09316 male affected Fmr1 gene sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND16386 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Fmr1 gene

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 46;fra(X)(q27);Y in 12% of PBL;institutionalized;mild mental retardation;negative for FMR-1 gene expression;affected male by Southern analysis

characteristic: family id

text: brother

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM09317 male affected Fmr1 gene sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND16388 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Black/Portuguese;phenotypically normal;a son with the same inv had lethal type II OI;the pericentric inv has a brkpt at the site of the gene for alpha 2(I) procollagen;norm type I & III collagen structure & biosynthesis;46;XX;inv(7)

characteristic: description

text: parent

text: 46;XX;inv(7)(pter>p13::q22>p13::q22> qter)

characteristic: karyotype

text: Homo sapiens

text: Other

text: Female

text: Osteogenesis imperfecta: genetics uncertain, lethal

text: Inverted chromosome

text: GM09324 female unaffected Inverted chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 81 YR

text: B-Lymphocyte

text: NINDS Repository

text: danish;english

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND16400 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: 26 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Black/Portuguese;phenotypically normal;46;XY;spouse of GM09324;a deceased son had lethal type II OI;normal type I & III collagen structure & biosynthesis

text: parent

text: Homo sapiens

characteristic: organism

text: Other

text: Male

text: LETHAL

text: GM09325 male unaffected Osteogenesis imperfecta: genetics uncertain sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ash jewish

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND16408 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 2 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Phenotypically normal

text: IRISH/ENGLISH

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: Xyy syndrome

text: GM09326 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND16409 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: History of infertility;a daughter has 46;XX;del(2)(p22.2p21)

characteristic: description

text: 46;X;del(X)(pter->q22::q26->qter);46;X;del(X)(pter->q22::q26->qter).arr Xq22.2q27.2(102822051-140567791)x1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM09332 female unaffected Chromosome deletion sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: English;Irish;Scottish;Swedish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND16436 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Wilms tumor 1

text: 6 MO

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 46;XY in fibroblast culture;maternal grandmother had hemihypertrophy;mother and 2 maternal uncles also have Wilms tumor;and another maternal uncle has a urinary tract anomaly

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Wilms tumor 1

text: GM09333 male affected Wilms tumor 1 sample


text: Coriell

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: English

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: ND16437 male unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Down-slanting eyes;epicanthal folds;brushfield spots in left eye;flat nasal bridge;high arched palate;small ventricular septal defect;both parents have normal karyotypes

text: 46;XX;6q+;46;XX;dup(6)(pter->q24::q21>qter).ish dup(6)(wcp6+).arr 6q21q24.2(107861056-143105847)x3;46;XX;dup(6)(pter>q24 or q25::q21>qter).ish dup(6)(wcp6+)

text: Homo sapiens

text: Caucasian

text: Female

text: Duplicated chromosome

text: GM09367 female unaffected Copy number variation (cnv) reference panel sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND16453 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 1 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Rhizomelic form with limb shortening;stippled epiphyses;congenital cataracts;mental retardation;deficiency of peroxisomal plasmalogen synthesis;see GM09291 Lymphoid

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM09399 male affected Rhizomelic chondrodysplasia punctata type 1 sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 77 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinson disease

text: ND16454 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;see GM09292 Lymphoid

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM09400 female unaffected Rhizomelic chondrodysplasia punctata type 1 sample


text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND16462 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;see GM09293 Lymphoid

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM09401 male unaffected Rhizomelic chondrodysplasia punctata type 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND16463 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 2 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies;rhizomelic form with limb shortening;flexion contractures of elbows & knees;small head;stippled epiphyses;expired at age 2.5 mo;def peroxisomal plasmalogen synthesis in fibroblasts

text: Homo sapiens

text: Caucasian

text: Male

text: GM09402 male affected Rhizomelic chondrodysplasia punctata type 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND16471 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 21 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal with short stature;a son with the abnormal X chromosome expired 1 hour after delivery

characteristic: description

text: 46;X;der(X)t(X;Y)(Xqter>Xp22.3:: Yq11.2>Yqter);46;X;der(X)t(X;Y)(Xqter>Xp22.3:: Yq11.2>Yqter) .ish der(X)(DZY1+;STS-;DXZ1+);46;X;der(X)t(X;Y)(Yqter->Yq11.22::Xp22.3->Xqter).ish der(X)(DZY1+;STS-;DXZ1+).arr Xp22.33p22.31(108464-8400710)x1;Xq28(154616632-154887040)x3;Yq11.221q12(14579379-27209311)x1;22q11.21(17161533-17386984)x3;22q11.22(21079532-21553233)x1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM09403 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 72 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND16479 female affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Seizures;myoclonus;dementia;and spasticity;a brother died at age 11 with the same disease;diagnosis is most consistent with late infantile amaurotic idiocy;slightly elevated urinary dolichol;CLN2 protease deficient;the donor subject has one allele which carries a T-to-A transition at nucleotide g.4023 (c.860T>A) which converts the ile-287 codon (ATC) to asn (AAC);resulting in a missense mutation in exon 7 of the CLN2 (TPP1) gene Ile287Asn (I287N) .

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Asian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: Cln2 gene

text: Ceroid lipofuscinosis, neuronal 2, late infantile type

text: GM09404 female affected CLN2 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: ND16480 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: A sib has t(X;13) & Retinoblastoma;clinically normal;46;XX

characteristic: description

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Sporadic

text: Retinoblastoma

text: GM09425 female unaffected Retinoblastoma sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: A child has t(X;13) and retinoblastoma;clinically unaffected;46;XX

text: mother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM09426 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 62 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Progressive supranuclear palsy

text: ND16487 female affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: A child has t(X;13) and retinoblastoma;clinically unaffected;46;XY

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM09427 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Progressive supranuclear palsy

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND16488 female affected Progressive supranuclear palsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two affected sons;PBL are negative for fra(X) in 200 metaphases;affected son is GM09497 Fibroblast;carrier female by Southern analysis

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Fragile x mental retardation syndrome

text: GM09444 female unaffected Fragile x mental retardation syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND16489 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Usher syndrome type ia

text: 31 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically affected;3 sibs & both parents are also affected;son of GM09449

characteristic: description

text: ACADIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

text: GM09448 male affected Usher syndrome type ia sample


text: Coriell

text: live

text: Generic

text: 60 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND16495 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Usher syndrome type ia

text: 62 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically affected;spouse & 4 children are also affected

text: ACADIAN

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Usher syndrome type ia

text: GM09449 male affected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Progressive supranuclear palsy

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

characteristic: tag

text: ND16496 male affected Progressive supranuclear palsy sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Usher syndrome type ia

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically affected;spouse & 3 children are also affected;spouse of GM09455

text: ACADIAN

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ia

text: GM09454 female affected Usher syndrome type ia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Progressive supranuclear palsy

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND16497 female affected Progressive supranuclear palsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Usher syndrome type ia

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically affected;spouse;3 children;& a brother are also affected;spouse of GM09454

characteristic: description

text: ACADIAN

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

text: GM09455 male affected Usher syndrome type ia sample


text: Coriell

text: live

text: Generic

text: STROKE

text: 82 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: STROKE

text: ND16498 male affected STROKE sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;Acadian;1 affected son (GM09458);donor subject is heterozygous for a G>A transition at nucleotide 216 in exon 3 of the USH1C gene 216G>A resulting in a splice-site mutation that causes a 35 bp frame-shift deletion

text: ACADIAN

characteristic: ethnicity

text: mother

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ush1c gene

text: Usher syndrome type ic

text: GM09456 female unaffected USH1C sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND16499 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;1 affected brother(GM09458);son of GM09459 & 09456

text: ACADIAN

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ic

text: GM09457 male unaffected Usher syndrome type ic sample


text: Coriell

text: live

text: Generic

text: 79 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ash Jewish

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND16500 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;Acadian;hearing loss noted at age 6 months;profound bilateral sensorineural hearing loss confirmed via audiometric tests;funduscopic exam shows pale optic discs;attenuated retinal vessels;and mild bone spicule pigmentary changes in the midperipheral retina;speech awareness threshold is 105dB for left ear with no response at maximum intensity for right ear;donor subject is homozygous for a G>A transition at nucleotide 216 in exon 3 of the USH1C gene 216G>A resulting in a splice-site mutation that causes a 35 bp frame-shift deletion (new splice site is created that eliminates the use of the normal splice site resulting in loss of normal mRNA)

characteristic: description

text: ACADIAN

characteristic: ethnicity

text: proband

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: Ush1c gene

text: Usher syndrome type ic

text: GM09458 male affected USH1C sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Ischemic stroke

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Ndpt115 - ischemic stroke, caucasian panel

text: Ischemic stroke

text: ND16504 male affected Ischemic stroke sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;Acadian;1 affected son (GM09458);donor subject is heteroygous for a G>A transition at nucleotide 216 in exon 3 of the USH1C gene 216G>A resulting in a splice-site mutation that causes a 35 bp frame-shift deletion

text: ACADIAN

text: father

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ush1c gene

characteristic: tag

text: Usher syndrome type ic

text: GM09459 male unaffected USH1C sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 56 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND16505 female unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Usher syndrome type ia

text: 32 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Acadian;clinically affected;a brother & a paternal aunt are also affected;daughter of GM10302 & 09722

characteristic: description

text: ACADIAN

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ia

text: GM09461 female affected Usher syndrome type ia sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND16519 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;spouse of GM09461

text: ACADIAN

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Usher syndrome type ia

text: GM09462 male unaffected Usher syndrome type ia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Progressive supranuclear palsy

text: 71 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

characteristic: tag

text: ND16520 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Usher syndrome type ia

text: 27 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically affected;2 sibs are similarly affected;diagnosis of RP confirmed by electroretinography;audiometric test indicated a profound;bilateral sensorineural hearing loss;son of GM09464A

text: ACADIAN

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

text: GM09463 male affected Usher syndrome type ia sample


text: Coriell

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: African American

text: Male

text: ND16523 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;3 children are affected

characteristic: description

text: ACADIAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ia

text: GM09464 female unaffected Usher syndrome type ia sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Scottish;Belgium

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND16524 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;3 sibs are affected;daughter of GM09464A

text: ACADIAN

characteristic: ethnicity

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ia

text: GM09465 female unaffected Usher syndrome type ia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: English

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND16525 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 19 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;2 affected brothers;daughter of GM09472

text: ACADIAN

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ia

characteristic: tag

text: GM09469 female unaffected Usher syndrome type ia sample


text: Coriell

text: live

text: Generic

text: 75 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ash Jewish

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND16540 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Usher syndrome type ia

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Acadian;clinically aff;a bro is also aff;audiometric test results showed a bilateral sensorineural hearing loss in the severe sloping to profound loss range;diag of RP confirmed by electroretinography;46;XY;son of GM09472

characteristic: description

text: ACADIAN

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

text: GM09470 male affected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND16552 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Usher syndrome type ia

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically affected;audiometric test results showed a profound bilateral sensorineural hearing loss;decreased visual acuity & constricted visual fields;son of GM09472

text: ACADIAN

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

text: GM09471 male affected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND16553 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected sons;daughter of GM09474 and GM09473

text: ACADIAN

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ia

characteristic: tag

text: GM09472 female unaffected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Azores;Ireland

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND16559 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;2 affected grandsons

characteristic: description

text: ACADIAN

text: maternal grandmother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Usher syndrome type ia

text: GM09473 female unaffected Usher syndrome type ia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Hungarian

text: husband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: ND16560 male unaffected Control sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 68 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: ACADIAN

characteristic: ethnicity

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ia

text: GM09474 male unaffected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: ND16577 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 77 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;paternal uncle of GM09474A

text: ACADIAN

text: maternal great uncle

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Usher syndrome type ia

text: GM09475 male unaffected Usher syndrome type ia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Progressive supranuclear palsy

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

characteristic: tag

text: ND16578 female affected Progressive supranuclear palsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Gilles de la tourette syndrome

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Onset at age 5;severe obsessive-compulsive behavior;head jerking;body jerking;grunting vocal tics;and echolalia;treated with Parnate;Lithium;and Pimozide;a brother is also affected;son of GM09487 and 09488

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GTS

text: Gilles de la tourette syndrome

text: GM09483 male affected Gilles de la tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND16585 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected brothers;daughter of GM09487 & 09488

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GTS

text: Gilles de la tourette syndrome

text: GM09484 female unaffected Gilles de la tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Cape Verdian

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND16589 male unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Gilles de la tourette syndrome

text: 20 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Throat clearing;bed rocking;learning disabilities;son of GM09487 and 09488

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GTS

text: Gilles de la tourette syndrome

text: GM09485 male affected Gilles de la tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND16596 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mild compulsive behavior but no motor or vocal tics;2 affected sons

characteristic: description

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GTS

text: Gilles de la tourette syndrome

text: GM09487 male unaffected Gilles de la tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: ND16597 male unaffected Control sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Eye tics but no vocal noises;mental echolalia;& compulsion to touch things;2 affected sons

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GTS

text: Gilles de la tourette syndrome

text: GM09488 female unaffected Gilles de la tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 55 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Male

text: Population/convenience control

text: ND16620 male unaffected Ninds repository hispanic control plate- coaims tested sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 15 FW

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Type II;sim affected sib;46;XY;thin & poorly mineralized bony trabeculae;many regions of fracture callus;slender bony trabeculae in palate;humerus;& ribs;ribs are irregular;appear beaded;makes abnorm type I procollagen;pass 2 at CCR

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM09494 male affected OSTEOGENESIS IMPERFECTA: AUTOSOMAL DOMINANT - 166200, 166210, 166220 or 166230 sample


text: Coriell

text: live

text: Generic

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Other

text: Female

characteristic: sex

text: ND16621 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Other

text: Male

text: ND16622 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 27 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;2 similarly affected children;synthesizes normal procollagens;passage 2 at CCR

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM09495 female unaffected OSTEOGENESIS IMPERFECTA: AUTOSOMAL DOMINANT - 166200, 166210, 166220 or 166230 sample


text: Coriell

text: live

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NINDS Repository

text: nephew

text: Homo sapiens

characteristic: organism

text: Male

text: ND16623 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM09496 male unaffected OSTEOGENESIS IMPERFECTA: AUTOSOMAL DOMINANT - 166200, 166210, 166220 or 166230 sample


text: Coriell

text: live

text: Generic

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND16624 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Fmr1 gene

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 20% of PBL are positive for fra(X);similarly affected brother;large ears;macro-orchidism;mental retardation;hyperactive behavior;affected male by Southern analysis;mother is GM09444 Lymphoid

text: proband

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM09497 male affected Fmr1 gene sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 18 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

text: Female

text: ND16625 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Hemochromatosis

text: 7 WK

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Lung fibroblast culture;liver biopsy showed fibrosis & increased iron;M phenotype with low levels of Alpha-1-antitrypsin activity;oliguria;thrombocytopenia;elevated blood ammonia level & hepatic encephalopathy;splenomegaly

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Neonatal

text: Hemochromatosis

text: GM09498 female affected Hemochromatosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Female

characteristic: tag

text: ND16626 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 2 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM09500 Fibro;several dysmorphic features including congen heart disease;ECHO is compat with Tetralogy of Fallot;oxycephalic & brachycephalic head shape;lrg;flat anterior fontanel;prom forehead;rocker bottom feet;46;XY;1ps;NOR+

characteristic: description

text: proband

text: 46;XY;add(1)(?ps::p36.31>qter) 1ps is NOR positive

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Marker chromosome

text: Tetralogy of fallot

text: GM09499 male unaffected Marker chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 24 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND16628 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Marker chromosome

text: 2 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM09499 Lymphoid;several dysmorphic features including congen heart disease;ECHO is compat with Tetralogy of Fallot;oxycephalic & brachycephalic head shape;lrg;flat anterior fontanel;prom forehead;rocker bottom feet;46;XY;1ps;NOR+

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Marker chromosome

text: Tetralogy of fallot

text: GM09500 male affected Marker chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Progressive supranuclear palsy

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND16650 male affected Progressive supranuclear palsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;46;XY;8% of cells show random chromosome loss & 4% are tetraploid

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tetralogy of fallot

text: GM09501 male unaffected Tetralogy of fallot sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND16651 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;46;XX

characteristic: description

text: mother

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Tetralogy of fallot

text: GM09502 female unaffected Tetralogy of fallot sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND16660 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 10 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (lower left abdomen);46;XY;6% of cells show random chromosome loss

text: 46;XY;47;XY;+20 2 /46;XY 48

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM09503 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 72 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ash Jewish

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND16661 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;daughter of GM09523A

characteristic: family id

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GTS

text: Gilles de la tourette syndrome

text: GM09522 female unaffected Gilles de la tourette syndrome sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND16662 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Eye blinking motor tics most of her life with no vocal tics;mother of GM09522

characteristic: description

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: GTS

text: Gilles de la tourette syndrome

text: GM09523 female unaffected Gilles de la tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND16663 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;child with an unbalanced translocation is GM09285 Fibro

text: mother

text: 46;XX;t(3;21)(3qter>3p24.2::21q21> 21qter;21pter>21q21::3p24.2>3pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM09528 female unaffected Translocated chromosome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND16679 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Neurofibromatosis type i

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Neurofibromas;caf au lait spots;mother;4 sibs;a daughter;and a granddaughter are also affected;46;XX

text: IRISH/SCOTTISH/ENGLISH

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Neurofibromatosis type i

text: GM09534 female affected Neurofibromatosis type i sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: same subject as ND31960

text: proband

text: Homo sapiens

characteristic: organism

text: Female

text: Parkinson disease

characteristic: tag

text: ND16680 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Neurofibromatosis type i

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Multiple cafe au lait spots;slightly slower development than sibs;mother and grandmother are affected;sister of GM09539

characteristic: description

text: IRISH/SCOTTISH/ENGLISH

characteristic: ethnicity

text: granddaughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Neurofibromatosis type i

text: GM09535 female affected Neurofibromatosis type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 18 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: More than one race

text: Female

text: ND16691 female 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

text: 54 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Unaffected spouse of GM09537

text: ITALIAN/ENGLISH

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: Apparently healthy non-fetal tissue

text: GM09536 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND16705 male unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;clinically asymptomatic;mother;sister;and grandmother are affected

text: IRISH/SCOTTISH/ENGLISH

characteristic: family id

text: granddaughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Neurofibromatosis type i

text: GM09539 female unaffected Neurofibromatosis type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Progressive supranuclear palsy

characteristic: tag

text: ND16711 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected

characteristic: description

text: maternal uncle

text: Homo sapiens

text: Caucasian

text: Male

text: GTS

text: Gilles de la tourette syndrome

text: GM09541 male unaffected Gilles de la tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND16734 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;cousin of GM0983 Fibroblast (unbalanced translocation)

text: maternal cousin

text: 46;XY;t(10;21)(10pter>10q24.1::21q22.1> 21qter;21pter>21q22.1::10q24.1>10qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM09542 male unaffected Translocated chromosome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND19187 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Sitosterolemia

text: 19 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Elevated plasma plant sterols;xanthoma and elevated plasma cholesterol which are dependent upon the level of dietary cholesterol;no hyperapobetalipoproteinemia;negative family history;diagnosis is most consistent with phytosterolemia

text: Homo sapiens

text: Caucasian

text: Female

text: Sitosterolemia

text: GM09543 female affected Sitosterolemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND19190 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Pelizaeus-merzbacher disease

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Spastic quadreplegia;an affected brother died at age 10;see GM09546 Fibroblast;donor subject has a C>T transition at nucleotide 767 (767C>T) in exon 5 of the PLP1 gene resulting in a missense mutation;a substitution of serine for proline at codon 215 Pro215Ser (P215S)

text: ITALIAN

characteristic: ethnicity

characteristic: family id

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PMD

text: Pelizaeus-merzbacher disease

text: GM09545 male affected Pelizaeus-merzbacher disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

characteristic: tag

text: ND19191 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 20 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;poor head control and nystagmus noted at 3 months of age;spastic quadriparesis evident by age 4 years;chorioathetotic movements began between age 8-10 years;optic atrophy;dysconjugate eye movements with jerky vertical and rotatory nystagmus;developed muscle spasms in late teens;at age 22 years weight = 46 pounds;length = 124 cm;and head circumference = 50.5 cm;mild exophthalmos;at age 22 years no longer evidence of nystagmus or chorioathetotic movements;affected brother died of pneumonia at age 10 years;donor subject is hemizygous for a C>T transition at nucleotide 643 in exon 5 of the PLP1 gene 643C>T resulting in a substitution of serine for proline at codon 215 Pro215Ser (P215S) .

characteristic: description

text: ITALIAN

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PMD

text: Proteolipid protein 1

text: Pelizaeus-merzbacher disease

text: GM09546 male affected PLP1 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 56 YR

characteristic: cell line

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

text: ND19195 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two brothers are affected

text: ITALIAN

characteristic: ethnicity

characteristic: family id

text: sister

characteristic: gene

text: ARG296CYS AND SER486THR

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PMD

text: Pelizaeus-merzbacher disease

text: GM09547 female unaffected Pelizaeus-merzbacher disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 29 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: ND19196 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two affected sons;clinically unaffected;4 unaffected brothers;donor subject has a C>T transition at nucleotide 767 (767C>T) in exon 5 of the PLP1 gene resulting in a missense mutation;a substitution of serine for proline at codon 215 Pro215Ser (P215S)

characteristic: description

text: ITALIAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: PMD

text: Pelizaeus-merzbacher disease

text: GM09548 female unaffected Pelizaeus-merzbacher disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 33 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND19197 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Two affected sons

text: ITALIAN

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: PMD

text: Apparently healthy non-fetal tissue

text: Pelizaeus-merzbacher disease

text: GM09549 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Progressive supranuclear palsy

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Progressive supranuclear palsy

text: ND19198 male affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two brothers are affected

text: ITALIAN

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: PMD

characteristic: tag

text: Pelizaeus-merzbacher disease

text: GM09550 female unaffected Pelizaeus-merzbacher disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND19199 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Crigler-najjar syndrome

text: 2 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Increasing unconjugated hyperbilirubinemia from birth;15-24 mg% bilirubin in blood;level controlled with phototherapy;absent liver bilirubin glucuronyltransferase;absent bilirubin conjugates in bile;parents are related;the donor subject is homozygous for a 13 bp deletion in exon 2 of the UGT1A1 gene.

characteristic: description

text: ITALIAN

characteristic: gene

text: 13-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Crigler-najjar syndrome

text: Udp-glycosyltransferase 1 family, polypeptide a1

text: GM09551 male affected Crigler-najjar syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 70 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: Progressive supranuclear palsy

text: ND19203 female affected Progressive supranuclear palsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Moderate mental retardation with dysmorphic features

characteristic: family id

text: maternal uncle

text: 47;XY;+der(21)(21pter>21q21:: 3p24.2>3pter);47;XY;+der(21)t(3;21)(21pter>21q21:: 3p24.2>3pter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM09552 male unaffected Copy number variation (cnv) refernece panel 02 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

characteristic: tag

text: ND19211 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 14 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Eye blinking tics for many years;throat clearing & grunting vocal tics;son of GM09567 & 09566A

characteristic: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: GTS

text: Gilles de la tourette syndrome

text: GM09563 male unaffected Gilles de la tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 29 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Male

text: Parkinson disease

text: ND19214 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Motor tics & a fear of deep water;wife of GM09567;mother of GM09563A & 09656

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: GTS

text: Gilles de la tourette syndrome

text: GM09566 female unaffected Gilles de la tourette syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND19217 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;spouse (motor tics);GM09566A;is proband's maternal aunt;father of GM09656;09563A;& 09567

text: in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: GTS

text: Gilles de la tourette syndrome

text: GM09567 male unaffected Gilles de la tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive supranuclear palsy

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND19218 female affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;at risk;negative for fra(X) in peripheral blood lymphocytes;brother & 3 maternal uncles are affected

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM09578 female unaffected Mental retardation, x-linked nonspecific type 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND19230 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 47 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 2 affected daughters

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM09579 female unaffected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 91 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND19231 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 21 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected sisters

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM09580 male unaffected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 88 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND19234 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Ataxia-telangiectasia

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Similarly affected sister;onset at age 1.5;eye telangiectasias at age 2;elevated alpha fetoprotein at age 8;treated with Thymosin to improve failing T cell function;no frequent serious infections

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM09581 female affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND19247 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Ataxia-telangiectasia

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 1 3/12;eye telangiectasias at age 3;treated with Thymosin to improve T cell function;some problem with infections

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM09582 female affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND19248 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 2 affected daughters

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM09583 male unaffected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Irish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND19262 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 87 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected granddaughters

characteristic: description

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM09584 male unaffected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: austrian

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND19263 male unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 2 affected sons;father of GM09586 and GM09587;mutation is a substitution (C>T) at nucleotide 9022 in exon 65 resulting in a missense at codon 3008 Arg3008Cys (R3008C)

characteristic: family id

text: father

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: GM09585 male unaffected AT sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND19266 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Ataxia-telangiectasia

text: 34 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 5;positive for telangiectasia;elevated alpha fetoprotein at age 34;few colds and no serious infections

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM09586 male affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 27 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND19291 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: AT

text: 39 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Similarly affected brother;onset at age 3;positive for telangiectasia;wheelchair at age 20;elevated alpha fetoprotein at age 39;no excess respiratory infections;compound heterozygote;the maternal allele carries a 4bp deletion at IVS59+1 which results in skipping of exon 59 leading to the deletion of 50 amino acids beginning at codon 2758 and the paternal allele carries a C>T mutation at nucleotide 9022 in exon 65 resulting in an amino acid change of R>C at codon 3008;in addition;the paternal allele carries a neutral sequence variation (735C>T) resulting in no change of the valine at codon 245

characteristic: description

text: proband

text: ATM

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM09587 male affected AT sample


text: Coriell

text: live

text: Generic

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: American Indian

text: Female

text: ND19322 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 61 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected sons;mother of GM09586 and GM09587;has a 4bp deletion in intron 59 (8418+1del4) resulting in skipping of exon 59;causing a deletion of 50 amino acids at codon 2758

text: mother

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM09588 female unaffected AT sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Progressive supranuclear palsy

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Progressive supranuclear palsy

text: ND19342 male affected Progressive supranuclear palsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Coagulation factor ii

text: 7 MO

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hispanic;bloody diarrhea;prolonged protime & PTT;8% of Factor II coagulant & 12% of Factor II antigen;parents are asymptomatic;parents & relatives show no evidence of Factor II deficiency;maternal aunt had a spontaneous CNS bleed

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Coagulation factor ii

characteristic: tag

text: GM09589 female affected Coagulation factor ii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND19343 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hispanic;multiple eroded sites with blisters;some hemorrhagic blisters;loss of nails on fingers & toes;no fusion of digits;a similarly affected sister died at age 21;probably junctional type;see GM09591 Lymphoid

characteristic: description

text: BELIZEAN

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM09590 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Progressive supranuclear palsy

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Progressive supranuclear palsy

text: ND19347 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 21 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hispanic;multiple eroded sites with blisters;some hemorrhagic blisters;loss of nails on fingers & toes;no fusion of digits;a similarly affected sister died at age 21;probably junctional type;see GM09590 Fibroblast

text: BELIZEAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM09591 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND19348 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 58 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected daughters;see GM09593 Lymphoid

text: BELIZEAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM09592 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND19351 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected daughters;see GM09592 Fibroblast

characteristic: description

text: BELIZEAN

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM09593 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

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: Male

text: Progressive supranuclear palsy

text: ND19354 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Eye blinking

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GTS

text: Gilles de la tourette syndrome

text: GM09595 female unaffected Gilles de la tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND19355 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;small size;club foot;both parents have normal karyotypes

text: 46;XY;del(11)(pter>q14.2::q23.1>qter) .ish del(11)(b442e11+;D11S4874+);rev ish dim (11q);46;XY;del(11)(pter>q14.2::q23.1>qter).ish del(11)(b442e11+);rev ish dim (11q);46;XY;del(11)(pter>q14.2::q23.3>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

characteristic: tag

text: GM09596 male unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND19362 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Factor vii deficiency

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Recurrent nosebleeds;intramuscular hematoma;deficient plasma Factor VII activity;mother had prolonged menses and prolonged bleeding following a miscarriage

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Factor vii deficiency

text: GM09608 female affected Factor vii deficiency sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinson disease

text: ND19363 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;no motor or vocal tics or obsessive-compulsive behavior but;occasionally has problems with distractability & sometimes acts without thinking;daughter of GM09611

text: maternal cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: GTS

text: Gilles de la tourette syndrome

text: GM09610 female unaffected Gilles de la tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND19364 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;her deceased spouse;the proband's maternal uncle;had a history of motor tics;mother of GM09610

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: GTS

text: Gilles de la tourette syndrome

text: GM09611 female unaffected Gilles de la tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 70 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND19373 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 8 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Culture established from spontaneous abortion material;mother has had 2 spontaneous abortions

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Isochromosome

text: GM09613 male unaffected Isochromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND19375 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Probably recessive dystrophic Mitis type;recurrent blisters on knees & hands since age 1;blisters on gums & oral mucosa;lost fingernails grew back;blisters heal then reform at same sites;bro is also affected;see GM09615 Fibro

text: proband

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: GM09614 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND19385 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Probably recessive dystrophic Mitis type;recurrent blisters on knees & hands since age 1;blisters on gums & oral mucosa;lost fingernails grew back;blisters heal then reform at same sites;bro is also affected;see GM09614 Lymph

text: proband

text: Homo sapiens

text: Black

text: Female

characteristic: sex

characteristic: tag

text: GM09615 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Ash Jewish

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND19386 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Neurofibromatosis type i

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Multiple neurofibromas;multiple caf au lait spots;1 affected son

characteristic: description

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM09616 female affected Neurofibromatosis type i sample