characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Chromosome deletion

text: 15 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Dystrophic myopathy;congenital adrenal hypoplasia;severe developmental delay;osteoporosis with pathological fractures;hyperglycerolemia;glyceroluria;brother is also affected;donor subject has a deletion of exons 72-79 in the dystrophin gene as determined by multiplex PCR

text: DMD

characteristic: gene

text: 46;X;dup(Y)(pter->q12::q11.223->qter).ish Xq28(DXYS129+);dup(Y)q11.223q12)(DYZ1+;DXYS129+).arr Xp21.2(29833719-31101198)x0;Yq11.223q11.23(23922936-27083811)x2

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: Hyperglycerolemia

text: GM10283 male affected Chromosome deletion sample

characteristic: title


status: PUBLIC

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: Epilepsy

tag: attribute

text: 38 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND20701 male affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Moderately severe mental retardation;seizures;behavioral disorder;short stature;wide-based;shuffling gait;dysarthric speech;acid alpha-glucosidase WBC phenotype is 1-2

characteristic: description

text: 46;XY;r(17)(::p13->q25::).arr(1-22)x2;(XY)x1;46;XY;r(17)(::p13>q25::)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Ring chromosome

text: GM10284 male unaffected Ring chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20702 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

characteristic: NCBI submission package

text: Polycystic kidney and hepatic disease 1

text: 36 FW

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Expired at age 1 day;oligohydramnios;bilateral contractures of lower extremities;minor external ear abnormality;pulmonary hypoplasia;congenital hepatic fibrosis;46;XY in spleen biopsy;negative family history

text: Homo sapiens

text: Caucasian

text: Male

text: Polycystic kidney and hepatic disease 1

text: GM10287 male affected Polycystic kidney and hepatic disease 1 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 19 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20703 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Negative family history;born without skin on hands & feet;blisters;multiple areas of hypopigmentation & some hyperpigmented areas of skin;dystrophic fingernails & toenails;probably simplex Dowling-Meara type;see GM10295 Fibro

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: GM10294 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 17 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20704 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Negative family history;born without skin on hands & feet;blisters;multiple areas of hypopigmentation & some hyperpigmented areas of skin;dystrophic fingernails & toenails;probably simplex Dowling-Meara type;see GM10294 Lymph

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM10295 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20705 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected daughter with EB simplex;see GM10297 Fibro

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM10296 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20706 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 50 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected daughter with EB simplex;see GM10296 Lymph

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM10297 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20707 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Negative family history;blisters present on hands & feet since birth;blisters worsen with trauma;no scarring or internal problems;possible EB simplex variant;pt also has a history of mental illness;diabetes;& hypertension

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: GM10301 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;2 affected children & a sister;spouse of GM09722

text: ACADIAN

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Usher syndrome type ia

characteristic: tag

text: GM10302 male unaffected Usher syndrome type ia sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 61 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND20710 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pos fam hx;pseudosyndactyly with mitten formation on hands & feet;skin is markedly involved with diffuse atrophy & scarring;squamous cell carcinomas;iron deficiency anemia;probably recessive dystrophic Hallopeau-Siemens type

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM10306 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20711 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 28 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal

text: 46;XY;t(5;22)(5pter>5q11.2::22q13.3> 22qter;22pter>22q13.3::5q11.2>5qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

text: GM10308 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Tourette syndrome

text: ND20712 female affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Holocarboxylase synthetase deficiency

text: 4 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Metabolic acidosis;organic acidemia;deficient fibroblast pyruvate carboxylase;propionyl CoA carboxylase;& 3-methylcrotonyl CoA carboxylase activity;biotin responsive;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1648 of the HLCS gene (c.1648G>A) resulting in the substitution of methionine for valine at codon 550 Val550Met (V550M) and a second allele has a C>T change at nucleotide 1980 (c.1980C>T) resulting in a premature termination at codon 565 Arg565Ter (R565X)

text: proband

text: HLCS

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: Holocarboxylase synthetase deficiency

characteristic: tag

text: HLCS

text: Holocarboxylase synthetase

text: GM10309 male affected Holocarboxylase synthetase deficiency sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 41 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20713 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected father of GM10309A

characteristic: description

text: father

text: Homo sapiens

text: Black

text: Male

text: Holocarboxylase synthetase deficiency

text: GM10310 male unaffected Holocarboxylase synthetase deficiency sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND20714 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of GM10309A

text: mother

text: Homo sapiens

text: Black

text: Female

text: Holocarboxylase synthetase deficiency

text: GM10311 female unaffected Holocarboxylase synthetase deficiency sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND20717 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 12 FW

text: Chorionic villus-derived cell line

text: NIGMS Human Genetic Cell Repository

text: 47;XX;+22;8% of cells show random chromosome loss

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Aneuploid chromosome number - trisomy

text: GM10315 female unaffected Aneuploid chromosome number - trisomy 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

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND20722 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 5 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Blisters on neck & back at age 2 days;extreme skin fragility;chronic skin erosions;loss of fingernails & toenails;epidermal autografts;negative family history;probably junctional Gravis-Herlitz type

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM10319 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Multiple system atrophy

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: African American

characteristic: race

text: Female

characteristic: sex

text: Multiple system atrophy

text: ND20723 female affected Multiple system atrophy sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 35 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected son with probable junctional EB

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Epidermolysis bullosa: dystrophic junctional or simplex types

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM10320 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20726 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 2 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pregnancy complicated by maternal substance abuse;sloping forehead;sm anterior fontanelle;overriding sagittal;coronal;& lambdoid sutures;cup-shaped ear deforms;very prom nasal root;abnor palmar creases;contractures;incr tone

text: 45;XY;der(13)(13pter>13q34::15q15>15qter)mat;-15

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Translocated chromosome

text: GM10329 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 73 YR

characteristic: age

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: ND20727 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;daughter affected with probable recessive dystrophic Hallopeau-Siemens type EB is GM10346 Lymphoid

characteristic: description

text: AFRICAN-AMERICAN

characteristic: ethnicity

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: GM10345 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND20729 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Neg fam hx;blisters present at birth;erosions & scarring of distal extremities;syndactyly;loss of nails;esophageal dysfunction;slight microstomia;probably recessive dystrophic HallopeauSiemens type;mother is GM10345 Fibro

text: proband

text: Homo sapiens

text: Black

text: Female

characteristic: tag

text: GM10346 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 35 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20743 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Negative family history;blisters present on feet at birth;blisters and scars on all extremities;esophageal erosions and stenosis;syndactyly;symblepharon;abnormally developed teeth;probably recessive dystrophic type

characteristic: description

text: ITALIAN

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM10347 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND20744 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected child

text: ITALIAN

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM10349 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND20745 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected child

text: ITALIAN

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM10351 male unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

text: 72 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ash Jewish

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND20756 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 75 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Acadian;clinically unaffected;3 affected grandchildren

characteristic: description

text: ACADIAN

characteristic: family id

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ic

text: GM10353 female unaffected Usher syndrome type ic sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND20757 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Acadian;2 similarly affected sibs;vascular and pigmentary changes typical of RP;visual field defect;retinal abnormality;visual acuity without glasses is 20/25 in right eye and 20/30 in left at distant points;113dB+ hearing loss for right ear and 116dB+ loss for left;poor manual and oral commun skill;profound bilateral sensorineural hearing loss;absent reflex thresholds for both ears;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)

text: ACADIAN

characteristic: ethnicity

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Ush1c gene

text: Usher syndrome type ic

text: GM10354 male affected USH1C sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND20758 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 81 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: description

text: ACADIAN

characteristic: family id

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ic

text: GM10355 female unaffected Usher syndrome type ic sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

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

text: Female

text: ND20759 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

characteristic: NCBI submission package

text: 73 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 ic

text: GM10356 male unaffected Usher syndrome type ic sample


text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND20760 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 54 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Acadian;clinically unaffected;3 affected children;son of GM10355A

text: ACADIAN

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Usher syndrome type ic

text: GM10357 male unaffected Usher syndrome type ic sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND20761 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

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;3 affected children;daughter of GM10356 and GM10353

characteristic: description

text: ACADIAN

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Usher syndrome type ic

text: GM10358 female unaffected Usher syndrome type ic sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND20762 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 24 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;Acadian;3 affected sibs;brother of GM10354 and GM10506;son of GM10357B and GM10358;donor subject does not carry a USH1C gene mutation

text: ACADIAN

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Usher syndrome type ic

text: GM10359 male unaffected Usher syndrome type ic sample


text: Coriell

text: live

text: Generic

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Tourette syndrome

text: ND20767 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Hyperglycinemia

text: 2 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Infantile myoclonic encephalopathy;hypotonia;46;XY

text: Homo sapiens

text: Caucasian

text: Male

text: Hyperglycinemia

text: Isolated nonketotic type i

text: GM10360 male affected Hyperglycinemia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20768 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Ehlers-danlos syndrome: type iv

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM10362 Fibro;pos family history for mitral valve prolapse in 2 sibs;father;& mother;frequent hemorrhaging;patellar dislocation;multiple pneumothoraces;melanomas;mild skin distensibility;joint hyperextensibility

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Arterial, ecchymotic type

text: Ehlers-danlos syndrome: type iv

text: GM10361 female affected Ehlers-danlos syndrome: type iv sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20772 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Ehlers-danlos syndrome: type iv

text: 30 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM10361 Lymph;pos family history for mitral valve prolapse in 2 sibs;father;& mother;frequent hemorrhaging;patellar dislocation;multiple pneumothoraces;melanomas;mild skin distensibility;joint hyperextensibility

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Arterial, ecchymotic type

text: Ehlers-danlos syndrome: type iv

text: GM10362 female affected Ehlers-danlos syndrome: type iv sample


text: Coriell

text: live

text: Generic

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND20773 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Positive family history;blisters present at birth;mildly affected forming blisters in response to heat or friction;questionable osteoarthritis;mult miscarriages;hypertrophic scars;prob simplex Koebner type;see GM10364 Fibro

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM10363 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND20774 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Positive family history;blisters present at birth;mildly affected forming blisters in response to heat or friction;questionable osteoarthritis;mult miscarriages;hypertrophic scars;prob simplex Koebner type;see GM10363 Lymph

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM10364 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinson disease

text: ND20777 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Progressive supranuclear palsy

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND20786 male affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two aff children & 3 aff grandchildren;blisters at birth;blisters all over body especially at sites of friction;all teeth extracted;hx of thyroid cond;thickened split nails;probably simplex Koebner type;see GM10366 Fibroblast

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM10365 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Tourette syndrome

text: ND20789 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 56 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Two aff children & 3 aff grandchildren;blisters at birth;blisters all over body especially at sites of friction;all teeth extracted;hx of thyroid cond;thickened split nails;probably simplex Koebner type;see GM10365 Lymphoid

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM10366 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Ashkenazi Jewish

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20790 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Positive family history;blisters since birth especially on hands & feet;repeated ear infections;oral thrush & monilial infection of groin;EM exam of biopsy consistent with EB simplex probably Koebner type

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: GM10367 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND20791 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 2 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Bilateral colobomas irides;high;arched palate;dysplastic pinna;large capillary hemangioma of forehead;VSD;postaxial hexadactyly of hands;hydronephrosis;apnea

characteristic: description

text: 47;XX;t(13;15)(13pter>13q22::15q14> 15qter;15pter>15q14::13q22>13qter)pat;+der(15)(15pter>15q14::13q22>13qter)pat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM10374 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND20792 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected children;affected son is GM10379 and GM10381 Fibroblast;46;XY;inv(9) with 10% random chromosome loss in lymphoblasts;affected son has same inv(9)

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: father

text: Homo sapiens

text: Black

text: Male

text: Fraser syndrome

characteristic: tag

text: GM10378 male unaffected Fraser syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND20793 female affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Fraser syndrome

text: 19 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibro cult (axilla);sim aff sib;bilat cryptophthalmos;abs palpebrae;hypertelorism;ext audit canals incompletely canalized;laryngeal atresia;pulmon hyperplasia;bilat agen of kidneys & ureters;penis deform;dad is GM10378A Lym

characteristic: family id

text: proband

text: 46;XY;inv(9)(pter>p11::q13>p11::q13>qter)

text: Homo sapiens

text: Black

text: Male

text: Fraser syndrome

text: Inverted chromosome

text: GM10379 male affected Fraser syndrome sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 6 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND20794 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Fraser syndrome

text: 19 FW

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibro cult (fetal demise);sim aff sib;bilat cryptophthalmos;absent palpebrae;hypertelorism;ext audit canals incomp canalized;laryngeal atresia;pulmon hyperplasia;bilat agen of kidneys & ureters;penis deform;dad is GM10378A Lym

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Male

text: Fraser syndrome

text: GM10381 male affected Fraser syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND20805 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Chromosome deletion

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;truncus arteriosus;Type I;ventricular septal defect;right sided aortic arch;hypocalcemia;thymic and parathyroid hypoplasia at autopsy;hypertelorism;low-set ears;parents are GM10383 and GM10384;parents have normal karyotypes;passage 3 at CCR

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: DGS

characteristic: tag

text: Chromosome deletion

text: Digeorge syndrome

text: GM10382 male affected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Ischemic stroke

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Ischemic stroke

text: ND20813 female affected Ischemic stroke sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son (GM10382A Fibroblast) has 46;XY;del (22) & DiGeorge syndrome;clinically normal spouse of GM10384;46;XY in PBL

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: DGS

text: Digeorge syndrome

text: GM10383 male unaffected Digeorge syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 77 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: husband

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND20814 male unaffected Control sample


text: Coriell

text: live

text: Generic

text: 20 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son (GM10382A Fibroblast) has 46;XY;del (22) & DiGeorge syndrome;clinically normal spouse of GM10383;46;XX in PBL

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: DGS

text: Digeorge syndrome

text: GM10384 female unaffected Digeorge syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND20822 male affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 16 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Primary amenorrhea

text: 46;X;t(X;19)(Xpter>Xq21.3::19p13.3> 19pter;19qter>19p13.3::Xq21.3>Xqter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

text: GM10386 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND20823 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 9 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pakistani;parents are first cousins;expired at age 9 days;EM showed typical changes of recessive dystrophic EB with attenuation & absence of anchoring fibrils & a split below the basement membrane

text: PAKISTANI

characteristic: ethnicity

text: proband

text: Homo sapiens

text: East Indian

text: Female

text: GM10388 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 12 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20824 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Muscular dystrophy

text: 7 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Similarly aff brother;microcephalic;ment retard;muscle biopsy revealed a moderately severe myopathy;congenital muscular dystrophy with CNS involvement documented clinically & radiographically;46;XX in PBL;possible Fukuyama type

characteristic: description

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: PROGRESSIVE WITH CNS INVOLVEMENT & RECESSIVE INHERITANCE

text: Muscular dystrophy

text: GM10389 female affected Muscular dystrophy sample


text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND20825 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Neonatal death;postconception age of 21 wks;mult congen anom including: bladder outlet obstruct;hypospadias;retinal dysplasia;bilat clinodactyly;Potter's facies;oligohydramnios & sm thorax;sim aff bro;46;XY;parents have norm karyos

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM10392 male affected Familial multiple congenital anomalies - unknown syndrome or inheritance sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND20826 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Translocated chromosome

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed as pseudohermaphrodite at birth;denovo;phenotypic female with vaginal stenosis which was repaired and recontructed;karyotype is male;parents karyotypes are normal;exploratory operation of genitalia showed true hermaphroditism;retarded development;now lives in group home;older sibling died of La Flora disease at 20 years of age

text: proband

text: 46;XY;add(7)(?::7p22>7qter).ish der(7)(Xpter>Xp21::7p22>7qter)(STS+;wcpX+;D7S589+).rev ish enh(Xpter>Xp21)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM10393 female affected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 11 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20827 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 4 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies including cleft palate;microcephaly;dislocated left hip;hypertelorism;left hemifacial microsomia;pulmonic stenosis;& nasolacrimal duct stenosis;mental retardation;see GM11428 Lymphoid

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Duplicated chromosome

text: GM10394 female unaffected Duplicated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND20843 female affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Citrullinemia

text: 5 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Encephalopathy;apnea;seizures;& coma;expired at age 7 days;elevated serum ammonia level;elevated blood & urine citrulline;no argininosuccinate synthetase activity

text: Homo sapiens

text: Asiatic Indian

text: Male

characteristic: sex

text: Citrullinemia

characteristic: tag

text: Classic

text: GM10396 male affected Citrullinemia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20844 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 2 DA

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Acardiac twin fetus;1 cell out of 50 had an additional unidentifiable fragment

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Aneuploid chromosome number - trisomy

text: GM10401 female unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

text: Generic

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20845 female 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: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two children with classic galactosemia;despite well documented adequate dietary management since birth;both children were ment retarded & both had tremor & prom cerebellar signs;parent has carrier level of transferase activ;GALT gene mutation: 1025C>T Arg333Trp (R333W)

characteristic: description

text: father

text: GALT

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GALT

text: Galactosemia

text: GM10402 male unaffected Galactose-1-phosphate uridylyltransferase sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: ND20846 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: Hypophosphatasia

text: 16 FW

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Radiologic evidence consistent with diagnosis;deficient cultured amniotic fluid cell liver/bone/kidney alkaline phosphatase activity;previously affected sib

text: Homo sapiens

text: Black

text: Female

text: Phosphoethanolaminuria - 241500 or 241510

text: Hypophosphatasia

text: GM10403 female affected Hypophosphatasia sample


text: Coriell

text: live

text: Generic

text: 78 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND20848 male unaffected Control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;reproductive history includes 1 normal child;1 stillborn;& 1 child with multiple congenital anomalies

characteristic: description

text: proband

text: 46;XX;t(2;5)(2qter>2p24::5p15.3>5pter;5qter>5p15.3::2p24>2pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM10404 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND20849 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Congenital heart disease

text: 5 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hispanic;truncus arteriosus;type A-1;with malalignment-type ventricular septal def;partial abs of aorto-pulmonary septum & quadriceps truncus valve with mild myxoid degen;cyanosis;expired at age 5 wks;no evidence of DiGeorge syn

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Congenital heart disease

characteristic: tag

text: Truncus arteriosus

text: GM10407 male affected Congenital heart disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20853 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Congenital heart disease

text: 10 DA

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Transposition of great arteries;large patent atrial-septal defect;extensive hyaline membrane disease;cyanosis;expired at age 10 days

text: Homo sapiens

text: Caucasian

text: Male

text: Transposition of great vessels

text: Congenital heart disease

text: GM10408 male affected Congenital heart disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20854 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Aspartylglucosaminuria

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Finnish;mental retardation and some connective tissue changes;2% of normal lymphoblast N-aspartyl-beta-glucosaminidase activity

characteristic: description

text: FINNISH

text: Homo sapiens

text: Caucasian

text: Female

text: Aspartylglucosaminuria

text: GM10417 female affected Aspartylglucosaminuria sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Tourette syndrome

text: ND20855 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Aspartylglucosaminuria

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Finnish;mental retardation;some connective tissue changes;coarse facial features;3% of normal lymphoblast Naspartyl-beta-glucosaminidase activity

text: FINNISH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Aspartylglucosaminuria

characteristic: tag

text: GM10418 male affected Aspartylglucosaminuria sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 80 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Control

text: Homo sapiens

text: Caucasian

text: Male

text: ND20857 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Sialic acid storage disease

text: 34 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Finnish;severe mental retardation associated with ataxia;increased amount of free sialic acid in urine;similarly affected sister

text: FINNISH

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: SIASD

text: Sialic acid storage disease

text: GM10419 male affected Sialic acid storage disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND20874 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Sialic acid storage disease

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Finnish;severe mental retardation with ataxia;increased amount of free sialic acid in urine

characteristic: description

text: FINNISH

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: SIASD

text: Sialic acid storage disease

text: GM10420 female affected Sialic acid storage disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND20875 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Reye syndrome

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Child with rapidly progressive course;liver biopsy showed significant intracellular fat which is consistent with the diagnosis;EM exam showed marked pleiomorphism of the mitochondria and significant mitochondrial disruption

text: Homo sapiens

text: Caucasian

text: Male

text: Reye syndrome

characteristic: tag

text: GM10423 male affected Reye syndrome sample


text: Coriell

text: live

text: Generic

text: 63 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND20898 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP17BE;25% of normal UV induced unscheduled DNA synthesis;see GM02253E Lymphoid;typical skin and neurologic abnormalities;onset at about age 10;significantly lower than normal colony forming ability post UV irradiation

text: proband

text: Homo sapiens

text: Black

text: Male

text: XPD

text: GM10428 male affected Xeroderma pigmentosum, complementation group d sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 64 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20900 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: XPD

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP6BE;positive family history;neurologic complications;see GM08207B SV40 Transformed Fibroblast;typical skin and neurologic abnormalities;onset at about age 10;donor subject is a compound heterozygote for mutations in the ERCC2 gene: one allele carries a C-to-T substitution at nucleotide 2047 in the ERCC2 cDNA (2047C>T) which results in a change of Arg-683 to Trp ARG683TRP (R683W) and the second allele deletion of 78 nucleotides in exon 3 beginning at nucleotide 106 which results in the deletion of amino acids 36 to 61 (DEL 36_61).

text: proband

characteristic: gene

text: 78 bp deletion (106-183)

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Xeroderma pigmentosum, complementation group d

text: XPD

text: Excision-repair: complementing defective in chinese hamster 2

text: GM10430 female affected XPD sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: French

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND20904 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;spouse & 6 children are affected

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: MFS

text: Marfan syndrome

text: GM10431 female unaffected Marfan syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 62 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: English

text: husband

text: Homo sapiens

text: Caucasian

text: Male

text: Control

characteristic: tag

text: Population/convenience control

text: ND20905 male unaffected Control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 5'7 tall;clinically unaffected

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: MFS

text: Marfan syndrome

text: GM10432 female unaffected Marfan syndrome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Progressive supranuclear palsy

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND20919 male affected Progressive supranuclear palsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Marfan syndrome

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 5'8 tall;thin;hyperextensibility of joints;arachnodactyly;mild striae on abdomen;bilateral lens dislocations;mitral valve prolapse;mild tricuspid regurgitation;normal sized aortic root;46;XX;daughter of GM10431

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: MFS

text: Marfan syndrome

text: GM10433 female affected Marfan syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: ND20920 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 29 FW

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Placenta biopsy;similarly affected sib died shortly after delivery;another sib died of hydrops in utero at 30+ weeks;IACI diagnosed in utero by hyperechogenicity;edema and generalized calcification found in arteries;see GM10440 Lymphoid;donor subject is homozygous for a C>A transversion at nucleotide 913 in exon 8 of the ENPP1 gene resulting in the substitution of threonine for proline at codon 305 Pro305Thr (P305T)

characteristic: description

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Ectonucleotide pyrophosphatase/phosphodiesterase 1

text: GM10439 female affected Arterial calcification generalized of infancy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Irish;Scottish;Danish;German;english

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND20923 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 29 FW

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Similarly affected sib died shortly after delivery;another sib died of hydrops in utero at 30+ weeks;IACI diagnosed in utero by hyperechogenicity;edema & generalized calcification found in arteries;see GM10439 Fibroblast;donor subject is homozygous for a C>A transversion at nucleotide 913 in exon 8 of the ENPP1 gene resulting in the substitution of threonine for proline at codon 305 Pro305Thr (P305T)

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM10440 female affected Arterial calcification generalized of infancy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: english;italian;hungarian

text: wife

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND20924 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 37 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected children;treated with subcutaneous heparin for anticardiolipin antibody positively associated with a history of phlebitis & pulmonary thromboemboli

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM10441 female unaffected Arterial calcification generalized of infancy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20930 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected father of GM10154 & 10153;spouse & daughter are affected;normal GTT;spouse of GM10155B

text: in-law

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM10450 male unaffected Maturity-onset diabetes of the young type i sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20931 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 5 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;mother has the same balanced inversion

text: JEWISH

characteristic: ethnicity

characteristic: family id

text: proband

text: 46;Y;inv(X)(pter>p11.2::q21.3> p11.2::q21.3>qter)mat

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Inverted chromosome

text: GM10457 male unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20933 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 1 DA

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Placenta biopsy

text: daughter

text: Homo sapiens

text: Black

characteristic: race

text: Female

characteristic: sex

text: Giant platelet syndrome

text: GM10461 female unaffected Giant platelet syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20934 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Umbilical cord biopsy

characteristic: description

text: daughter

text: Homo sapiens

text: Black

text: Female

text: Giant platelet syndrome

characteristic: tag

text: GM10462 female unaffected Giant platelet syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20935 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;deceased spouse;a son;& 2 granddaughters are affected;mother of GM10691A

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: MFS

text: Marfan syndrome

text: GM10463 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND20937 female affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Marfan syndrome

text: 23 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 6'2 tall;long limbs;arachnodactyly;high arched palate;early lens subluxation;dilated aortic root (41mm);mitral valve prolapse;father & 5 sibs are also affected

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: MFS

text: Marfan syndrome

text: GM10486 male affected Marfan syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 73 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND20938 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: In addition to adrenal hypoplasia pt has preauricular tags;pectus excavatum;cryptorchidism;progressive muscle weakness;& elevated CPK;46;XY in fibroblast culture;positive family history;see GM08788 Fibroblast

text: proband

text: Homo sapiens

text: Black

text: Male

text: GM10489 male affected Adrenal hypoplasia with additional congenital malformations sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND20943 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Short stature;poor tooth enamel;and many teeth removed;no other ectodermal signs;heterozygote manifesting adrenal insufficiency with no muscle weakness;2 affected brothers;see GM09964 Fibro

characteristic: description

text: AFRICAN-AMERICAN

characteristic: ethnicity

characteristic: family id

text: sister

text: Homo sapiens

text: Black

text: Female

text: GM10490 female affected Adrenal hypoplasia with additional congenital malformations sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND20944 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;3 affected sibs;daughter of GM10357B & 10358

text: ACADIAN

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Usher syndrome type ic

text: GM10505 female unaffected Usher syndrome type ic sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND20945 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Usher syndrome type ic

text: 27 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Acadian;2 sim aff sibs;ERG revealed no signif records for photopic or scotopic stimuli which are highly suggestive of RP;speech awareness thresholds were 80 dB in rt ear & 85dB in lft;unintelligible speech;good lipreading & man commun

text: ACADIAN

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Usher syndrome type ic

text: GM10506 female affected Usher syndrome type ic sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND20946 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Hypophosphatasia

text: 15 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Marked foreshortening of limbs & in utero fractures;soft thorax;virtual lack of ossification;2 similarly affected sisters;deficient fibroblast liver/bone/kidney alkaline phosphatase activity

characteristic: description

text: Homo sapiens

text: Caucasian

text: Phosphoethanolaminuria - 241500 or 241510

text: Hypophosphatasia

text: GM10507 unknown affected Hypophosphatasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND20958 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Retinitis pigmentosa 1

text: 88 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibroblast culture;clinically affected;deceased father was affected;one affected brother;spouse is GM09010A Lymphoid;affected son is GM08971 Lymphoid

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10515 female affected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20962 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 27 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Probable affected;affected father is GM10135;mother is GM10523;affected brother is GM10138;last examined in 1989;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10519 female affected Retinitis pigmentosa 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND20963 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;affected father is GM08993A;mother is GM09011A;brother is GM09768;last examined in 1989

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Retinitis pigmentosa 1

text: GM10521 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Tourette syndrome

text: ND20964 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected spouse is GM10135;affected son is GM10138;questionably affected daughter is GM10519;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10523 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: 51 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20965 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 56 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Symptomatic;deceased father was affected;affected brother is GM10135;affected sister is GM10132B;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10524 female affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND20966 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Retinitis pigmentosa 1

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Probable affected;affected mother is GM10141;sister is GM10537;last examined in 1989;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM10525 male affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND20967 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 84 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;deceased father & brother were affected;brother of GM10515 Fibroblast;paternal uncle of GM08947;10148;10141;10142;10127A;10128;10131;10130;10134;& 10137A;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM10526 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: 47 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20968 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;affected spouse is GM10133;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM10527 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND20969 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;deceased father;6 sibs;& 2 half-sibs are also affected (only 2 affected sibs are shown in pedigree);affected sibs are GM09005 & 09002;last examined in 1989

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM10529 male unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND20970 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 70 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;spouse of GM10533;affected daughter is GM09775;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM10530 male affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 46 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND20979 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;affected mother is GM10130;affected sister is GM10535;last examined in 1989.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Retinitis pigmentosa 1

text: GM10531 male unaffected Retinitis pigmentosa 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;spouse is affected;affected son is GM10125B;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

text: in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Retinitis pigmentosa 1

text: GM10532 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Progressive supranuclear palsy

characteristic: tag

text: ND20980 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected spouse is GM10530B;affected daughter is GM09775;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10533 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 19 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;affected mother is GM10133;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10534 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20982 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 46 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected mother is GM10130;brother is GM10531;donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene 2029C>T resulting in a substitution of a stop codon for arginine at codon 677 Arg677Ter (R677X) .

text: paternal cousin

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10535 female affected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND20983 female affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;both parents are affected;daughter of GM09002 & 08962;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

characteristic: description

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Retinitis pigmentosa 1

text: GM10536 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: Mexican

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Other

text: Male

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND20984 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk;affected mother is GM10141;probable affected brother is GM10525;last examined in 1989;donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.

text: paternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM10537 female unaffected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Mexican

text: spouse

text: Homo sapiens

text: Other

text: Female

text: Control

text: Population/convenience control

text: ND20985 female unaffected Control sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Giant platelet syndrome

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Fibro cultures from heterozygous dau are GM10461 & 10462;mild thrombocytopenia;giant platelets;& > 20 min bleeding time;nasal & vaginal spontaneous mucosal bleeding;multiple annual transfusions;lacks glycoprotein Ib on platelet

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Black

text: Female

text: Giant platelet syndrome

text: GM10552 female affected Giant platelet syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND20992 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;behavioral problems;profoundly retarded;del(13) occurred in cell culture

text: 47;XX;+mar.ish idic(15)(pter>q12::q12>pter)(D15Z++;D15Z1++;SNRPN+) 27 /47;XX;del(13)(pter>q21::q32>qter);+mar.ish del(13q)(wcp13+);idic(15)(q12)(D15Z++;D15Z1++;SNRPN+) 13 /46;XX 60;47;XX;del(13)(pter->q21::q32->qter);+mar 6 /47;XX;+mar 4 /46;XX 15 .arr 15q11.1q13.2(18317594-28143472)x3;15q13.2(28310399-28595222)x1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Aneuploid chromosome number - trisomy

characteristic: tag

text: GM10557 female unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

text: Generic

text: 40 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: ethnicity

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND20993 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 5'7 tall;heavy glasses;enlarged aortic root;striae on thighs;easy bruisability;slightly abnormal upper to lower body segment ratio in the Marfan range;obvious mitral click;possibly affected;daughter of GM10431

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: MFS

text: Marfan syndrome

text: GM10559 female unaffected Marfan syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20994 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Kallmann syn

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Chippewa/French;delayed sexual development;low 17-ketosteroids & gonadotropin levels;delayed mental development;hypogonadotropic hypogonadism;deficiency of olfaction;skeletal anomalies;46;XY;t(7;12)(q22;q24.1);inv(9);balanced

characteristic: description

text: AMERICAN INDIAN/FRENCH

text: Homo sapiens

text: Other

characteristic: race

text: Male

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

text: Translocated chromosome

text: Kallmann syn

text: GM10565 male affected Kallmann syn sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 66 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PD

characteristic: tag

text: Parkinson disease

text: ND21000 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 31 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 5'6 tall;normal physical exam;normal ECHO exam;normal eye exam

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: MFS

text: Marfan syndrome

text: GM10566 female unaffected Marfan syndrome sample