characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Chromosome deletion

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Microcephaly;round face;hypertelorism;epicanthal folds;low-set ears;micrognathia;mild mental delay;mild hypotonia;speech delay;attention deficit;recurrent upper respiratory infections;excessive mouthing;temper tantrums;shallow philtrum;downturned mouth;high arched palate;no cat-like cry;tubes in ears;de novo deletion;both parents have normal karyotypes

text: BELGIAN/POLISH/GERMAN/HUNGARIAN

text: 46;XX;del(5)(pter>p15.2::p14.2>qter).ish del(5)(D5S721/D5S23-;EGR-1+).arr 5p15.3p14.3(4459250-21656075)x1

text: Homo sapiens

text: Caucasian

text: Female

text: Cri-du-chat syndrome

text: Chromosome deletion

text: GM50215 female affected Chromosome deletion sample


status: PUBLIC

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 45 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Affected brother is ND03528;unaffected mother is ND03529

characteristic: description

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND03588 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Cockayne syndrome type unspecified

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;dwarfism;developmental delay;bilateral cataracts;poor dentition;typical facies;photosensitivity;failure to thrive;thin scalp hair;parents are third cousins

text: AMISH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Cockayne syndrome type unspecified

text: GM50332 female affected Cockayne syndrome type unspecified sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

text: ND03595 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Cockayne syndrome type unspecified

text: 7 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;subnormal recovery of cellular RNA synthesis following UV exposure;developmental delay;microcephaly;3 times the normal UV sensitivity;short stature

text: Homo sapiens

text: Caucasian

text: Male

text: Cockayne syndrome type unspecified

text: GM50333 male affected Cockayne syndrome type unspecified sample


text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother of ND03595

text: mother

text: Homo sapiens

text: African American

text: Female

text: ND03596 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Cockayne syndrome type unspecified

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hypothyroidism;short stature;microcephaly;developmental delay;typical facies with aged appearance and deficient subcutaneous adipose tissue;photodermatitis;hearing loss;spastic diplegia;cellular UV sensitivity;subnormal recovery of cellular RNA synthesis following UV exposure

characteristic: description

text: NORTHERN EUROPEAN

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Cockayne syndrome type unspecified

text: GM50334 male affected Cockayne syndrome type unspecified sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father is ND03598

characteristic: family id

text: proband

text: Homo sapiens

text: Asian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

text: ND03597 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND03597

text: father

text: Homo sapiens

text: Asian

text: Male

characteristic: tag

text: Epilepsy

text: ND03598 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND03603 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03604 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

text: Caucasian

text: Female

text: GM01465 female affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

text: 52 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND03610

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND03609 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: 11 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected

text: Homo sapiens

text: Caucasian

text: Male

text: GM01466 male affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND03609

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND03610 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Porphyria cutanea tarda

text: 58 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Porphyria cutanea tarda

text: GM01482 male affected Porphyria cutanea tarda sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND03612 male affected Subarachnoid hemorrhage sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Retinoblastoma

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Bilateral;46;XX;del(13)(pter>q14.1:: q22.1>qter) in fibroblasts;see GM01142A Fibroblast and GM03022 SV40 Transformed Fibroblast

text: proband

text: 46;XX;del(13)(pter->q13::q21.3->qter).arr 8p23.1(7157886-7796991)x3;13q13.3q21.33(38430028-70179226)x1;46;XX;del(13)(pter>q14.1::q22.1>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Sporadic

characteristic: tag

text: Retinoblastoma

text: GM01484 female affected Retinoblastoma sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND03614 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 37 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Third generation of MOD;see GM01241A Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM01486 male affected Diabetes mellitus: maturity onset diabetes - 222100 or 125850 sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND03616 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Unaffected;HLA type Aw26;B16/A2;B35;described as unreasonable and demanding by family members;Neutral Alpha-glucosidase C phenotype=1;46;XX

characteristic: description

text: JEWISH

characteristic: ethnicity

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Schizophrenia

text: SCZD

text: GM01487 female unaffected Schizophrenia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

characteristic: tag

text: Parkinson disease

text: ND03620 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Schizophrenia

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type Aw26;B16/Aw26;B16;see GM02497 Fibro;paralogical thinking;affective shielding;splitting of affect from content;suspiciousness;onset at age 15;hospitalized;Neutral Alpha-glucosidase C phenotype=1;positive family history;46;XY

text: JEWISH

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Schizophrenia

text: SCZD

text: GM01488 male affected Schizophrenia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03625 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Schizophrenia

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HLA type Aw26;B16/A18;B-;3 episodes of depression;ECT;no hypomania;Neutral Alpha-glucosidase C phenotype=2-1;2 affected children

characteristic: description

text: JEWISH

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Schizophrenia

text: SCZD

text: GM01489 male affected Schizophrenia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND03642 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Schizophrenia

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type Aw26;B16/A2;B35;see GM02503 Fibroblast;anorexia nervosa since adolescence;more schizoid than depressed;affected father and brother

text: JEWISH

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Schizophrenia

characteristic: tag

text: SCZD

text: GM01490 female affected Schizophrenia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND03645 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 15 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;B.S. Registry #44;increased sister chromatid exchange;chromosome breakage and unstable karyotype;increased post UV irradiation unscheduled DNA synthesis;donor subject is homozygous for a 6-bp deletion/7-bp insertion 6-bp del/7-bp ins at nucleotide 2;281 of the open reading frame of the RECQL3 gene;which results in a frameshift and a stop codon;donor subject has T>G transversion at the nucleotide preceding the splice acceptor site AG of intron 5 in the p53 gene that results in aberrant splicing of exon 5 and exon 7;omitting exon 6;this mutation generates a transcript that is predicted to encode a truncated p53 protein containing only 189 amino acid residues due to frame shift and a premature stop codon.

text: ASHKENAZI

characteristic: gene

characteristic: karyotype

text: 6-BP DEL/7-BP INS

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM01492 male affected RECQL3 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: African American

characteristic: race

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND03649 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Mucolipidosis iiia

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Alpha-L-iduronidase;beta-glucuronidase;beta-galactosidase;and neuraminidase;28% of normal level of N-acetylglucosaminylphosphotransferase activity;GlcNAc-Phosphotransferase activity = 14% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject is a compound heterozygote: one allele has an A>C transversion at nucleotide 174 in exon 1 of the GNPTAB gene 174A>C resulting in a substitution of glutamine for lysine at codon 4 Lys4Gln (K4Q) and a second allele has a 2-bp deletion in exon 19 of the GNPTAB gene 3665_3666delTC resulting in a frameshift and truncation of the protein in the beta subunit L1168fsX1172 .

characteristic: description

text: proband

text: GNPTAB

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: GNPTAB

characteristic: tag

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

text: Mucolipidosis iiia

text: GM01494 female affected Mucolipidosis iiia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND03668 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: Leigh syndrome

text: 3 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Infantile subacute;subnormal activation of pyruvate dehydrogenase complex in disrupted fibroblasts

text: Homo sapiens

text: Caucasian

text: Female

text: Leigh syndrome

text: GM01503 female affected Leigh syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: maternal first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND03669 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 38 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM01509 female affected Xeroderma pigmentosum: complementation group undetermined sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: ND03670 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Small testes;both parents apparently healthy;mother also carried the translocation

text: 46;XY;t(8;10)(8qter>8p21.1::10p15> 10pter;10qter>10p15::8p21.1>8pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM01512 male unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND03671 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;46;XX

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM01516 female unaffected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Multiple system atrophy

text: 62 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND03680

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple system atrophy

text: ND03679 male affected Multiple system atrophy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 19 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Growth and mental retardation;peculiar facies

text: cousin

text: 46;XY;der(5)(5pter>5q33:: 6q15>6q25::5q33>5qter)mat

text: Homo sapiens

text: Black

text: Male

text: Chromosome insertion

text: GM01524 male unaffected Chromosome insertion sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND03679

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND03680 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: AT

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT2BI;46;XX;t(14;14) clone in short term lymphocytes;46;XX in lymphoid culture;HLA type A28;(Aw31;33);B12;exhibits increased chromosomal radiation sensitivity;increased chromosome breakage induced by bleomycin;one allele carries an insertion of TT at nucleoside 6404 (6404insTT) in exon 46 which leads to a frameshift beginning at codon 2073 and a truncation at codon 2135 (L2073fsX2135)

text: sister

text: ATM

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM01525 female affected AT sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND03690 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: AT

text: 28 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT8BI;46;XX;t(X;14) clone in short term lymphocytes;HLA type A9;A10;Bw17;B13(Bw40);exhibits increased chromosomal radiation sensitivity;increased chromosome breakage induced by bleomycin;a T>C substitution at nucleotide 2 (2T>C) in exon 4 abolishes the initiation codon (Met1Thr)

characteristic: description

text: proband

text: ATM

characteristic: gene

text: 45;X;t(10;11)(10pter>10q11.2::11q13>11qter;11pter>11q13::10q11.2>10qter) 1 /46;XX 49;46;X;del(X)(pter>p11.4::p11.2>qter);t(2;14)(2qter>2p11.2::14q32>14qter;14pter>14q32::2p11.2>2pter) 2 /46;XX;t(2;14)(p11.2q32) 4 /46;XX;del(16)(pter>q12::q22>qter) 7 /46;XX 37;46;XX

characteristic: mutation

text: no initiation

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: Translocated chromosome

text: ATM

text: GM01526 female affected AT sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother of ND03702;unaffected spouse of ND03701

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND03700 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: CF

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A2;(A9);B7;(Bw40);clinically affected;homozygous for the F508 deletion mutation Phe508DEL;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 9T/9T

text: proband

text: CFTR

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Human gene mutation panel - cystic fibrosis (version 2)

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM01531 male affected CF sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND03702;unaffected spouse of ND03700

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND03701 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 19 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal transferase and kinase activity in fibroblasts;46;XX/46;X;t(X;3)(Xpter>Xq26:: 3p12>3pter;3qter>3p12::Xq26>Xqter)mat;bal;4%/96%;norm X is late replicating;2 affected sibs;GALT gene mutation is Gly188Arg (Q188R) /+

characteristic: description

text: sister

text: GALT

characteristic: gene

text: 46;X;t(X;3)(Xpter>Xq26::3p12> 3pter;3qter>3p12::Xq26>Xqter)mat 48 /46;XX 2;46;X;t(X;3)(Xpter>Xq26::3p12>3pter;3qter>3p12::Xq26>Xqter)mat;46;XX/46;X;t(X;3)(Xpter>Xq26::3p12> 3pter;3qter>3p12::Xq26>Xqter)mat

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: GALT

text: Translocated chromosome

text: Galactose-1-phosphate uridylyltransferase

text: Galactosemia

text: GM01533 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND03700;unaffected father is ND03701

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03702 male affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: proband

text: 46;XX;der(12)(12pter->12q24::5q33->5qter)mat.arr 5q34q35.3(161989095-180652396)x3;12q24.33(131397450-132287718)x1;46;XX;der(12)(12pter>12q24::5q33>5qter)mat

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: Translocated chromosome

text: GM01535 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Dementia with lewy bodies

text: 58 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND03704

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Dementia with lewy bodies

characteristic: tag

text: ND03703 male affected Dementia with lewy bodies sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 38 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Balanced carrier

characteristic: description

text: mother

text: 46;XX;t(5;12)(5pter>5q33::12q24>12qter;12pter>12q24::5q33>5qter)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

text: GM01536 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND03703

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND03704 female unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Family history of multiple abortions;wife is 46;XX

text: 46;XY;der(1)(1pter>1q32::3p21>3pter);der(3)(1qter>1q32::3p21>3q29::4p14>4pter);der(4)(4qter>4p14::3q29>3qter)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM01550 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: PD

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND03705 female affected PD sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Basal cell nevus syndrome

text: 27 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01553 Lymphoid;clinically affected;fibroblasts are hypersensitive to cell killing by ionizing radiation

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: BCNS

text: Basal cell nevus syndrome

text: GM01552 male affected Basal cell nevus syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Dementia with lewy bodies

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND03709

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Dementia with lewy bodies

characteristic: tag

text: Rem behavior disorder

text: ND03708 male affected Dementia with lewy bodies sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Basal cell nevus syndrome

text: 27 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01552 Fibroblast;HLA type A28;A3;Bw22;B13(B12);clinically affected

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: BCNS

text: Basal cell nevus syndrome

text: GM01553 male affected Basal cell nevus syndrome sample


text: Coriell

text: live

text: Generic

text: 77 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND03708

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND03709 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;minor dysmorphia

text: brother

text: 47;XY;+der(13)t(13;17)(13pter->13q14:: 17p13->17pter)mat.arr 13q11q14.3(17943627-51700800)x3;17p13.3(513-681780)x3;47;XY;+der(13)t(13;17)(13pter>13q14:: 17p13>17pter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM01555 male unaffected Translocated chromosome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND03737 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 27% of cells have 19p+;HLA type:A10;Aw24;Bw35;(B12);see GM00380 Fibroblast

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM01561 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 73 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND03750 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HLA type A3;A10;B13;B18;proband not in Repository;46;XY;22% of cells show random chromosome loss;clinically unaffected

characteristic: description

text: CTH

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: CTH

text: Cystathioninuria

text: Cystathionine gamma-lyase

text: GM01562 male unaffected Cystathionine gamma-lyase sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03751 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: 45;XX;der(1)(1pter->1q44::21q21->21qter);-21.arr 1q44(245602157-247190999)x1;21q11.2q21.1(13658168-17666286)x1;45;XX;der(1)(1pter>1q44:: 21q11>21qter);-21

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM01564 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND03760 male affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Phenylketonuria

text: 16 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Also has cystathioninuria;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 755 in exon 7 of the PAH gene 755G>A resulting in a substitution of glutamine for arginine at codon 252 Arg252Gln (R252Q) and a second allele has a splice site mutation at nucleotide 1315 IVS12+1G>A;HLA type A28;Aw24;B7;Bw35;donor subject is also homozygous for a C>T transition at nucleotide 356 in exon 2 of the CTH gene (356C>T) resulting in the substitution of isoleucine for threonine at codon 67 Thr67Ile (T67I)

characteristic: description

text: proband

text: CTH;PAH

characteristic: gene

text: G>A

text: Homo sapiens

text: Caucasian

text: Female

text: Phenylketonuria

text: CTH

text: Cystathioninuria

text: Cystathionine gamma-lyase

text: GM01565 female affected Phenylketonuria sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Cystathionine gamma-lyase

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A1;A28;B13;Bw35;47;XX;+12/ 46;XX;-10;+12/45;XX;-10;66%/30%/4%;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 356 in exon 2 of the CTH gene (356C>T) resulting in the substitution of isoleucine for threonine at codon 67 Thr67Ile (T67I);and the second allele has a 1 bp deletion at nucleotide 1220 in exon 11 (1220delC) resulting in the substitution of isoleucine for threonine at codon 355 Thr355Ile (T355I) causing a stop codon at 373

characteristic: family id

text: proband

text: CTH

text: 46;XX;47;XX;+12 33 /46;XX;-10;+12 15 /45;XX;-10 2

characteristic: mutation

text: 1 BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: CTH

text: Cystathioninuria

text: Cystathionine gamma-lyase

text: GM01566 female affected Cystathionine gamma-lyase sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: PD

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND01880.

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Late onset parkinsons dna panel: affected individuals

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND03765 female affected PD sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Familial hypercholesterolemia

text: 28 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Abnormal regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase and incorporation of oleate into cholesteryl esters

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: FHC

characteristic: tag

text: Familial hypercholesterolemia

text: GM01567 male affected Familial hypercholesterolemia sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 16 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND03787

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03786 male affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Heterozygote enzyme level of acid maltase

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease ii

text: GM01568 male unaffected Glycogen storage disease ii sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND03800 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Hypophosphatasia

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fetal skin;in utero onset;fatal;deficient fibroblast alkaline phosphatase activity;similarly affected sib

text: proband

text: Homo sapiens

text: Black

text: Male

text: Phosphoethanolaminuria - 241500 or 241510

text: Hypophosphatasia

text: GM01571 male affected Hypophosphatasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND03809 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Basal cell nevus syndrome

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01576 Lymphoid;clinically affected;fibroblasts are hypersensitive to cell killing by ionizing radiation

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: BCNS

text: Basal cell nevus syndrome

text: GM01575 female affected Basal cell nevus syndrome sample


text: Coriell

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 69 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial rupture-status undefined

text: ND03810 female affected Intracranial rupture-status undefined sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Basal cell nevus syndrome

text: 31 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01575 Fibroblast;clinically affected

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: BCNS

characteristic: tag

text: Basal cell nevus syndrome

text: GM01576 female affected Basal cell nevus syndrome sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 30 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03811 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Basal cell nevus syndrome

text: 39 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01578 Lymph;clinically affected

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: BCNS

text: Basal cell nevus syndrome

text: GM01577 male affected Basal cell nevus syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03815 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Basal cell nevus syndrome

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01577A Fibroblast;clinically affected

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: BCNS

text: Basal cell nevus syndrome

text: GM01578 male affected Basal cell nevus syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND03816 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 35 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple malformations and mental retardation

text: 46;XX;t(2;13)(2qter>2p13::13q32> 13qter;13pter>13q32::2p13>2pter);arr(1-22;X)x2

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

text: GM01579 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 66 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND03818 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 48 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Normal phenotype

text: maternal grandmother

text: 46;XX;t(10;21)(10pter>10q26::21q21> 21qter;21pter>21q21::10q26>10qter)

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

text: GM01580 female unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND03819 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Formerly GM00240;skin biopsy (left forearm);tendency to develop translocations in vitro;sister of GM02270A;46;XX;17% of cells show random chromosome loss;3% show random gain of one chromosome

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM01582 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: PATERNAL COUSIN;MIGRAINES

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03825 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type ii

text: 3 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Israeli;affected brother is GM01584 Amniotic;excessive mucopolysaccharide accumulation correctable by Hunter factor

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Mucopolysaccharidosis type ii

text: GM01583 male affected Mucopolysaccharidosis type ii sample


text: Coriell

text: live

text: Generic

text: 35 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND03826 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type ii

text: 21 FW

text: Amniotic fluid-derived cell line

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 46;XY;deficient iduronate sulfatase;Israeli;affected brother is GM01583 Fibroblast

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type ii

characteristic: tag

text: GM01584 male affected Mucopolysaccharidosis type ii sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND03827 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 5 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Reduced B-galactosidase activity in skin fibroblasts;serum studies compatible with diagnosis;culture grows poorly;GlcNAc-Phosphotransferase activity = <0.1% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject is homozygous for a 2-bp deletion in exon 19 of the GNPTAB gene 3665_3666delTC resulting in a frameshift and truncation of the protein in the beta subunit L1168fsX1172 .

text: proband

text: GNPTAB

characteristic: gene

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

text: ML II

text: GNPTAB

text: Mucolipidosis ii

text: GM01586 male affected N-acetylglucosamine-1-phosphotransferase alpha/beta subunits sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Multiple system atrophy

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND03830

characteristic: description

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Multiple system atrophy

text: ND03829 female affected Multiple system atrophy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Ataxia-telangiectasia

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;clinically affected. Homozygous for ATM gene mutation ATM:c.103C>T (rs55861249);ARG35TER mutation verified in GM01588 cell line by an external investigator .

text: ATM

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM01588 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: 71 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND03829

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND03830 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Heterozygote level of N-acetylglucosaminylphosphotransferase;clinically unaffected father of GM01586C;GlcNAc-Phosphotransferase activity = 94% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject has one allele which has a 2-bp deletion in exon 19 of the GNPTAB gene 3665_3666delTC resulting in a frameshift and truncation of the protein in the beta subunit L1168fsX1172 .

text: father

text: GNPTAB

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

text: ML II

characteristic: tag

text: GNPTAB

text: Mucolipidosis ii

text: GM01589 male unaffected N-acetylglucosamine-1-phosphotransferase alpha/beta subunits sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Multiple system atrophy

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND03833

characteristic: description

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple system atrophy

text: ND03832 male affected Multiple system atrophy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Heterozygote level of N-acetylglucosaminylphosphotransferase;clinically unaffected mother of GM01586C;GlcNAc-Phosphotransferase activity = 78% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject has one allele which has a 2-bp deletion in exon 19 of the GNPTAB gene 3665_3666delTC resulting in a frameshift and truncation of the protein in the beta subunit L1168fsX1172 .

text: mother

text: GNPTAB

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: ML II

text: GNPTAB

text: Mucolipidosis ii

text: GM01590 female unaffected N-acetylglucosamine-1-phosphotransferase alpha/beta subunits sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 65 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND03832

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND03833 female unaffected Neurologically normal caucasian control panel sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Wiskott-aldrich syndrome

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no family history of the disease

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: WAS

text: Wiskott-aldrich syndrome

text: GM01598 male affected Wiskott-aldrich syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND03845

characteristic: description

text: proband

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

characteristic: tag

text: ND03844 male affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Diabetic

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Sitosterolemia

text: GM01599 male unaffected Sitosterolemia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND03844

text: mother

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

text: ND03845 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Sitosterolemia

text: 18 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Tendon xanthomas;slightly elevated cholesterol

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Sitosterolemia

text: GM01600 female affected Sitosterolemia sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 79 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND03849 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 41 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Two affected children;clinically unaffected mother of GM01994A and 01600

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Sitosterolemia

text: GM01601 female unaffected Sitosterolemia sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND03864 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Gangliosidosis generalized gm1 type i

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal level of N-acetylgalactosamine 6 sulfate sulfatase;less than 4% of control B-galactosidase activity using either 4MU-B-gal or GM1 ganglioside;similarly affected sister;donor subject is a compound heterozygote with two mutations in the GLB1 gene: Trp273Leu (W273L)/Arg482His (R482H)

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Gangliosidosis generalized gm1 type i

text: Mucopolysaccharidosis type ivb

text: GM01602 female affected Gangliosidosis generalized gm1 type i sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND03873

characteristic: description

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Young onset parkinsons dna panel: affected individuals

characteristic: tag

text: PD

text: Parkinson disease

text: ND03872 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 12 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;skin biopsy;same patient as GM01604A;8% of cells show random chromosome loss

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy fetal tissue

text: GM01603 male unaffected Apparently healthy fetal tissue sample


text: Coriell

text: live

text: Generic

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND03872

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND03873 female unaffected Population/convenience control sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 12 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;lung biopsy;same patient as GM01603B

text: proband

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: Apparently healthy fetal tissue

text: GM01604 male unaffected Apparently healthy fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND03878

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinsons panel: caucasian from north america

text: PD

text: Parkinson disease

text: ND03875 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal with a family history of infertility and spontaneous abortions

characteristic: description

text: 46;XY;t(6;11)(6qter>6p23::11q23>11qter;11pter>11q23::6p23>6pter)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

characteristic: tag

text: GM01605 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND03876 female unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Gaucher disease type i

text: 30 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Adult;eastern European Jewish;hepatosplenomegaly since age 17;typical Gaucher's cells observed in bone marrow aspirant;negative family history;18% of control fibro glucocerebrosidase activity;donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 1226 in exon 9 of the GBA gene 1226A>G resulting in a substitution of serine for asparagine at codon 370 Asn370Ser (N370S) and a second allele has a G>T transversion at nucleotide 1297 in exon 9 of the GBA gene 1297G>T resulting in a substitution of leucine for valine at codon 394 Val394Leu (V394L) .

text: JEWISH

characteristic: ethnicity

text: GBA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Gaucher disease type i

text: GBA

text: Glucosidase acid beta

text: GM01607 male affected Gaucher disease type i sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND03875

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND03878 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Wolfram syndrome

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Onset at age 11;optic atrophy;on Insulin;2 affected sibs;see GM01795A Lymphoid

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Wolfram syndrome

text: GM01610 female affected Wolfram syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 8 MO

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND03879 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Wolfram syndrome

text: 15 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Onset at age 13;optic atrophy;on Insulin

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Wolfram syndrome

text: GM01611 female affected Wolfram syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Intracranial rupture-status undefined

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial rupture-status undefined

text: ND03883 female affected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

text: Inosine triphosphatase

text: 29 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;see GM01619 Lymphoid;deficient RBC ITpase;donor subject is homozygous for a C>A transversion at nucleotide 94 (94C>A) in exon 2 of the ITPA gene resulting in a proline to threonine substitution at codon 32 Pro32Thr (P32T)

text: proband

text: ITPA

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Inosine triphosphatase

text: ITPA

text: GM01617 female affected Inosine triphosphatase sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: PD

text: 84 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND03885

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND03884 female affected PD sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Inosine triphosphatase

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;see GM01617 Fibroblast;deficient RBC ITPase;20% of normal ITPase activity in lymphoblasts;Neutral Alpha-glucosidase C phenotype=1;donor subject is homozygous for a C>A transversion at nucleotide 94 (94C>A) in exon 2 of the ITPA gene resulting in a proline to threonine substitution at codon 32 Pro32Thr (P32T)

characteristic: description

text: proband

text: ITPA

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Inosine triphosphatase

text: ITPA

text: GM01619 female affected Inosine triphosphatase sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 84 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND03884

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND03885 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Hydroxymethylbilane synthase

text: 39 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Deficient uroporphyrinogen-I synthetase;2 affected children;donor subject is heterozygous for a C>T transition at nucleotide 104 in exon 4 of the HMBS gene (104C>T) resulting in the substitution of methionine for threonine at codon 35 Thr35Met (T35M)

text: mother

text: HMBS

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: Hydroxymethylbilane synthase

text: HMBS

text: Porphyria, acute intermittent

text: GM01621 female affected Hydroxymethylbilane synthase sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.

text: proband

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND03902 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Hydroxymethylbilane synthase

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient uroporphyrinogen-I synthetase;similarly affected brother & mother;donor subject is heterozygous for a C>T transition at nucleotide 104 in exon 4 of the HMBS gene (104C>T) resulting in the substitution of methionine for threonine at codon 35 Thr35Met (T35M)

characteristic: description

text: proband

text: HMBS

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Hydroxymethylbilane synthase

text: HMBS

text: Porphyria, acute intermittent

text: GM01622 female affected Hydroxymethylbilane synthase sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND03902

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND03903 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Hydroxymethylbilane synthase

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient uroporphyrinogen-I synthetase;donor subject is heterozygous for a C>T transition at nucleotide 104 in exon 4 of the HMBS gene (104C>T) resulting in the substitution of methionine for threonine at codon 35 Thr35Met (T35M)

characteristic: family id

text: brother

text: HMBS

text: Homo sapiens

text: Caucasian

text: Male

text: Hydroxymethylbilane synthase

characteristic: tag

text: HMBS

text: Porphyria, acute intermittent

text: GM01623 male affected Hydroxymethylbilane synthase sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND03915 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Hydroxymethylbilane synthase

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Deficient uroporphyrinogen-I synthetase;positive family history;donor subject is heterozygous for a C>T transition at nucleotide 104 in exon 4 of the HMBS gene (104C>T) resulting in the substitution of methionine for threonine at codon 35 Thr35Met (T35M)

text: proband

text: HMBS

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Hydroxymethylbilane synthase

text: HMBS

text: Porphyria, acute intermittent

text: GM01624 female affected Hydroxymethylbilane synthase sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: ND03916 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Hydroxymethylbilane synthase

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: son

text: HMBS

text: Homo sapiens

text: Caucasian

text: Male

text: Hydroxymethylbilane synthase

text: HMBS

text: Porphyria, acute intermittent

text: GM01625 male affected Hydroxymethylbilane synthase sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND03927

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND03926 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Xy female - 306100 or 233420

text: 1 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;H-Y antigen positive;G6PD type B;Xg(a) antigen positive;positive for TDF gene sequences (ZFY);mother is GM01948

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Xy female - 306100 or 233420

characteristic: tag

text: GM01628 female affected Xy female - 306100 or 233420 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND03927 male unaffected Control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Father is GM02474A Lymphoid;mildly retarded;small skull;pigmentary retinopathy symptoms;gait defect;spastic diplegia;fibroblasts have decreased post UV light and X-ray colony-forming ability;patient is CS1BE;complementation group B;culture is a poor grower;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 2087 in exon 10 of the ERCC6 gene (2087C>T) resulting in the substitution of tryptophan for arginine at codon 670 Arg670Trp (R670W);a second allele has a 1 bp deletion at nucleotide 3615 in exon 18 (3615delA) causing a frameshift beginning at codon 1179 and ending with a stop codon at 1200 (1179fsX1200

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: CSB

text: Excision-repair cross-complementing group 6

text: Cockayne syndrome type b

text: GM01629 female affected ERCC6 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND03941 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 3 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP1WI;small for age;speech problems;deficient repair activity;see GM02344 lymphoblastoid cell line;donor subject is homozygous for a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 of the XPA gene.

characteristic: description

text: proband

text: XPA

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: XPA

text: GM01630 male affected Xeroderma pigmentosum, complementation group a sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND03942 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 29 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Near normal repair;clinically normal;see GM07689 (lymphoblastoid);father of GM01630;the donor subject is heterozygous for a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 of the XPA gene with results in a missplice.

text: father

text: XPA

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: XPA

text: GM01631 male unaffected Xeroderma pigmentosum, complementation group a sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: ND03943 male unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Near normal repair;clinically normal;see GM07690 (lymphoblastoid);mother of GM01630;the donor subject is heterozygous for a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 of the XPA gene with results in a missplice.

text: mother

text: XPA

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: XPA

text: GM01632 female unaffected Xeroderma pigmentosum, complementation group a sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 7 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected mother is ND03958;unaffected father is ND03959

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03957 male affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Neurofibromatosis type i

text: 61 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Atypical;see GM01634 Lymphoid

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Neurofibromatosis type i

text: GM01633 male affected Neurofibromatosis type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 47 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Affected mother of ND03957;affected spouse of ND03959

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND03958 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Neurofibromatosis type i

text: 61 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Atypical;see GM01633 Fibroblast

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Neurofibromatosis type i

text: GM01634 male affected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND03957;unaffected spouse of ND03958

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND03959 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tuberous sclerosis

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Shagreen patch;see GM01636 Lymphoid;same patient as GM01643

text: proband

text: Homo sapiens

text: Black

text: Male

text: Tuberous sclerosis

text: TS

text: GM01635 male affected Tuberous sclerosis sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND03963 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tuberous sclerosis

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01643 and GM01635B Fibroblast;clinically affected

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Male

text: Tuberous sclerosis

text: TS

text: GM01636 male affected Tuberous sclerosis sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND03965 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tuberous sclerosis

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ashleaf spot;same patient as GM01644;see GM01638 Lymphoid

text: proband

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Tuberous sclerosis

text: TS

text: GM01637 female affected Tuberous sclerosis sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND03966 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tuberous sclerosis

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01644 and GM01637 Fibroblast;clinically affected

text: proband

text: Homo sapiens

text: Black

text: Female

text: Tuberous sclerosis

characteristic: tag

text: TS

text: GM01638 female affected Tuberous sclerosis sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03985

text: proband

text: Homo sapiens

characteristic: organism

text: African American

characteristic: race

text: Female

text: Epilepsy

text: ND03984 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Neurofibromatosis type i

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal skin;other fibroblasts also available;see GM01641 Lymphoid

text: proband

text: Homo sapiens

text: Black

text: Female

text: Neurofibromatosis type i

text: GM01639 female affected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND03984

text: mother

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

text: ND03985 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Neurofibromatosis type i

text: 19 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;see GM01639 Fibro

text: proband

text: Homo sapiens

text: Black

text: Female

text: Neurofibromatosis type i

text: GM01641 female affected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 6 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND03987;unaffected father is ND03988

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND03986 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tuberous sclerosis

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal skin;see GM01636 Lymphoid;same patient as GM01635B

characteristic: family id

text: proband

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Tuberous sclerosis

text: TS

text: GM01643 male affected Tuberous sclerosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother of ND03986;spouse of ND03988

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND03987 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Tuberous sclerosis

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal skin;see GM01638 Lymphoid;same patient as GM01637

text: proband

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: Tuberous sclerosis

characteristic: tag

text: TS

text: GM01644 female affected Tuberous sclerosis sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND03986;spouse of ND03987

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND03988 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01389 Fibroblast;diagnosed at age 16 years;expresses approximately half of the normal level of UV-Damaged DNA-Binding protein (UV-DDB)

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM01646 female affected Xeroderma pigmentosum, complementation group e sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04000

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND03999 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Hydroxymethylbilane synthase

text: 44 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient uroporphyrinogen-I synthetase;donor subject is heterozygous for two different mutations in exon 10 of the HMBS gene on a single allele: a T>A transversion at nucleotide 578 (578T>A) and a 5 bp deletion at nucleotide 582 (582_586delGCGCA)

characteristic: description

text: HMBS

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Hydroxymethylbilane synthase

text: HMBS

text: Porphyria, acute intermittent

text: GM01647 female affected Hydroxymethylbilane synthase sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND03999

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND04000 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Skin biopsy (left forearm);mother of GM01651A and GM01652B;46;XX;8% of cells show random chromosome loss and 7% are tetraploid

text: mother

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM01650 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND04005 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 13 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (left forearm);daughter of GM01650A and GM01653;granddaughter of GM01680 and GM01681;sister of GM01652B;46;XX;8% of cells show a t(1;2;16)

characteristic: description

text: sister

text: 46;XX;46;XX;t(1;2;16)(p13;q32;q24) 4 /46;XX;t(12;15)(p10;p10) 2 /46;XX 44;46;XX;t(1;2;16) 4 /46;XX 46

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM01651 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND04019

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinsons panel: caucasian from north america

text: PD

text: Parkinson disease

text: ND04018 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 11 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Skin biopsy (left forearm);daughter of GM01650A and 01653;granddaughter of GM01680A and 01681A;sister of GM01651B;46;XX;2% of cells show random chromosome loss and 6% are tetraploid

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM01652 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04018

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND04019 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 37 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (left forearm);father of GM01651A and GM01652B;son of GM01680 and GM01681

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM01653 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND04022;unaffected father is ND04023

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND04021 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 5 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: See GM01655 Lymphoid;2 sisters died of MSUD;Mennonite kindred;def branchedchain keto-acid decarboxylase act in fibro and lympho: expired at age 5;def of BCKDH complex subunit E1B (branchedchain alpha-keto acid decarboxylase)

text: MENNONITE

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM01654 female affected Maple syrup urine disease (msud) type ia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected son is ND04021;unaffected spouse is ND04023

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND04022 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM01654 Fibro;HLA type A1;A2;B13;Bw17(B23)(Bw40);Mennonite kindred;2 sisters died of MSUD;deficient BCKD (BCKAD) activity in fibro and lympho;expired at age 5;deficient of BCKD (BCKAD) complex subunit E1B;homozygous for Y438N mutation (formerly designated Y393N) in the BCKDHA gene

text: proband

text: BCKDHA

characteristic: gene

text: TYR438ASN (FORMERLY TYR393ASN)

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: BCKDHA

text: Maple syrup urine disease (msud) type ia

text: GM01655 female affected Branched-chain keto acid dehydrogenase e1, alpha polypeptide sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 38 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND04021;unaffected spouse is ND04022

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: ND04023 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Basal cell nevus syndrome

text: 53 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: See GM01657 and GM01658 Fibroblast;clinically affected

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: BCNS

text: Basal cell nevus syndrome

text: GM01656 male affected Basal cell nevus syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND04034 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Basal cell nevus syndrome

text: 53 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal skin;46;XY;14% of cells show random chromosome loss;see GM01656A Lymph;same patient as GM01658

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: BCNS

text: Basal cell nevus syndrome

text: GM01657 male affected Basal cell nevus syndrome sample