text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND04972

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

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: ND04980 female unaffected Population/convenience control sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: AT

tag: attribute

text: 15 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;Jewish-Moroccan;fibroblasts have decreased post x-ray irradiation colony-forming ability;AT19IJE-F;decreased post-neocarzinostatin exposure colony-forming ability;homozygous for the 103C>T transition in exon 5 of the ATM gene {Arg35Ter(R35X)}

characteristic: description

text: JEWISH

characteristic: ethnicity

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM02052 female affected AT sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND04984

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND04983 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;multiple breaks;gaps;occasional dicentrics;Arab;clinically affected;cells are not sensitive to cell-killing by mitomycin-C or diepoxybutane even at higher concentrations;see SV40 Transformed Fibroblasts GM06935A

text: ARABIAN

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM02053 female affected Fanconi anemia complementation group undetermined sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 50 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND04983

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND04984 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 15 Mb deletion

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Chromosome deletion

text: GM02054 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND04994;unaffected father is ND04995

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND04993 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Aspartylglucosaminuria

text: 32 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Finnish;less than 10% of normal Naspartyl-beta-glycosaminidase activity;the donor subject is a compound heterozygote;one allele carries a G-to-A transition (CGG>CAG) at nucleotide 482 of the AGA gene which results in a substitution of glutamine for arginine at codon 161 Arg161Gln (R161Q);the second allele carries a G-to-C transversion (TGC>TCC) at nucleotide 488 of the AGA gene which results in a substitution of serine for cysteine at codon 163 Cys163Ser (C163S) .

text: FINNISH

characteristic: ethnicity

text: AGA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Aspartylglucosaminuria

text: GM02056 male affected Aspartylglucosaminuria sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND04993;unaffected spouse is ND04995

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND04994 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Aspartylglucosaminuria

text: 27 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Finnish;less than 10% of normal Naspartyl-beta-glycosaminidase activity;the donor subject is heterozygous for a G-to-A transition (CGG>CAG) at nucleotide 482 of the AGA gene which results in a substitution of glutamine for arginine at codon 161 Arg161Gln (R161Q) and is homozygous for a G-to-C transversion (TGC>TCC) at nucleotide 488 of the AGA gene which results in a substitution of serine for cysteine at codon 163 Cys163Ser (C163S) .

characteristic: description

text: FINNISH

text: AGA

text: Homo sapiens

text: Caucasian

text: Female

text: Aspartylglucosaminuria

text: GM02057 female affected Aspartylglucosaminuria sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected father of ND04993;unaffected spouse is ND04994

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: ND04995 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Translocated chromosome

text: 11 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 87%/13% at passage 8;Down syndrome phenotype;both parents have normal karyotypes

text: ASHKENAZI

characteristic: ethnicity

text: 46;XX;i(21)(qter>q10::q10>qter) 13 /46;XX 87

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Trisomy 21

text: Translocated chromosome

text: GM02058 female affected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND04997

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: African American

text: Male

text: Epilepsy

text: ND04996 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Fanconi anemia, complementation group a

text: 20 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Complementation group A;46;XX in leukocytes with chromosome breaks;several sibs are also affected

text: Homo sapiens

text: Caucasian

text: Female

text: Fanconi anemia, complementation group a

text: FANCA

text: GM02061 female affected Fanconi anemia, complementation group a sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother of ND04996

characteristic: description

text: mother

text: Homo sapiens

text: African American

characteristic: race

text: Female

text: ND04997 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP5PD;46;XY;clinically affected;the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 with results in a missplice and the second allele carries a G-to-T substitution at nucleotide 631 (631G>T) which alters the arg-211 codon (CGA) to a nonsense codon (TGA) in exon 5 Arg211TER (R211X) .

text: XPA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: XPA

text: GM02062 male affected Xeroderma pigmentosum, complementation group a sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: cousin

text: Homo sapiens

text: Other

text: Male

text: Subarachnoid hemorrhage

text: ND05004 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Hemoglobin f

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ghanaian;homozygous for hereditary persistence of fetal Hb (HPFH-2);both G-gamma and A-gamma chains are synthesized;delta and beta globin gene DNA are deleted;heterozygous for elliptocytosis;46;XY

text: GHANAIAN

characteristic: ethnicity

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Hereditary persistence of pancellular

text: Hemoglobin f

text: GM02064 male affected Hemoglobin f sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 50 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Asian

text: Male

text: Parkinson disease

text: ND05011 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Mucolipidosis iiia

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient beta-galactosidase;hexosaminidase;arylsulfatase A;and beta-glucuronidase activity;GlcNAc-Phosphotransferase activity = 2% (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 a deletion in exon 13 of the GNPTAB gene 2215_2219delACTCA resulting in a frameshift and truncation of the protein in the alpha subunit S685fsX745 and a second allele has a donor splice site mutation in intron 17 of the GNPTAB gene IVS17+6T>G resulting in the skipping of exon 17 and a frameshift with a premature termination at residue 1085 P1084fsX1085 .

characteristic: description

text: GNPTAB

characteristic: gene

characteristic: mutation

text: 5-BP DEL

text: T>G

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: GNPTAB

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

text: Mucolipidosis iiia

text: GM02065 male affected Mucolipidosis iiia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

characteristic: tag

text: ND05014 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Cystinosis, nephropathic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Increased intracellular cystine in fibroblasts

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Cystinosis, nephropathic

text: CTNS

text: GM02066 female affected Cystinosis, nephropathic sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 17 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND05021;unaffected father is ND05022

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND05020 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Aneuploid chromosome number - trisomy

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Down syndrome phenotype;same sensitivity to interferon A and B as normal diploid fibroblasts using both VSV and EMC virus;hyper-responsive to B-adrenergic stimulation

characteristic: description

text: 47;XY;+21;47;XY;+21 44 /47;XY;t(1;16)(q21;p13.3;+21 4 /46;XY 2

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Trisomy 21

text: Aneuploid chromosome number - trisomy

text: GM02067 male affected Aneuploid chromosome number - trisomy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND05020;unaffected spouse is ND05022

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND05021 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX;t(6;7)(6pter>6q27::7q22>7qter;7pter>7q22::6q27>6qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM02068 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND05020;unaffected spouse is ND05021

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND05022 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: About 20% of normal beta-glucuronidase activity;clinically unaffected mother of GM00121A;one allele has the Arg356Ter (R356X) mutation in the GUSB gene: a C>T transition that introduces a termination codon in exon 7

text: mother

text: GUSB

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Mucopolysaccharidosis type vii

text: GM02074 female unaffected Mucopolysaccharidosis type vii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 47 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND05030 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Chediak-higashi syndrome

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Photophobia;no nystagmus;cytoplasmic inclusions in WBC;partial oculocutaneous albinism;fibroblasts show normal post UV irradiation cell survival and DNA repair

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Lyst included

text: Chediak-higashi syndrome

text: Chs1 lysosomal trafficking regulator included

text: GM02075 female affected Chediak-higashi syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND05043 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);see GM02078 Lymphoid

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM02077 female unaffected Huntington disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND05049 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 25 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);mother and grandfather are affected;see GM02077 Fibroblast

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM02078 female unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: PD

text: 71 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND05052

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND05051 male affected PD sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Huntington disease

text: 48 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM02080A Lymphoid;father is also affected

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM02079 female affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND05051

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

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: ND05052 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Huntington disease

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;father is also affected;see GM02079A Fibroblast

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM02080 female affected Huntington disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND05059 male affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B.S. Registry #53;increased frequency of sister chromatid exchange in fibroblasts;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.

text: ASHKENAZI

characteristic: ethnicity

text: proband

characteristic: gene

text: 6-BP DEL/7-BP INS

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM02085 female affected RECQL3 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Dementia with lewy bodies

text: 73 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND05071

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Dementia with lewy bodies

text: ND05070 male affected Dementia with lewy bodies sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP4JO;African;positive family history;blindness due to corneal opacity;skin shows areas of hypo- and hyperpigmentation but no malignancies;offspring of consanguineous parents;donor subject is homozygous G-to-A substitution at nucleotide 389 (389G>A) in exon 3 of the XPA gene which results in no splice site.

text: AFRICAN

text: proband

text: XPA

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: XPA

text: GM02090 male affected Xeroderma pigmentosum, complementation group a sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND05070

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND05071 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP5JO;African;blindness due to corneal opacity;skin shows areas of hypo- and hyperpigmentation but no malignancies;offspring of consanguineous parents;donor subject is homozygous G-to-A substitution at nucleotide 389 (389G>A) in exon 3 of the XPA gene which results in no splice site.

text: third cousin

text: XPA

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Black

text: Male

characteristic: tag

text: XPA

text: GM02091 male affected Xeroderma pigmentosum, complementation group a sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 14 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND05074;unaffected father is ND05075

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND05073 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Metachromatic leukodystrophy

text: 25 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Adult type;14 to 29% of control fibroblast arylsulfatase A activity

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Metachromatic leukodystrophy

text: GM02093 male affected Metachromatic leukodystrophy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND05073;unaffected spouse is ND05075

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: ND05074 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Sandhoff disease

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Juvenile;cerebellar ataxia;severe mental retardation;deficient hexosaminidase A and B;same patient as GM02144;normal level of fibro preBchain mRNA;3% of normal fibro Hex A activity;Hex B gene shows no gross abnormalities;point mutation in 1 beta-chain allele

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Sandhoff disease

text: GM02094 male affected Sandhoff disease sample


text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND05073;unaffected spouse is ND05074

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: ND05075 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Metachromatic leukodystrophy

text: 18 FW

characteristic: age

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Infantile type;passage 3 at CCR;after delivery showed increased urinary sulfatides

text: Homo sapiens

text: American Indian

text: Female

text: Metachromatic leukodystrophy

text: GM02095 female affected Metachromatic leukodystrophy sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND05076 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 15 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: De Sanctis-Cacchione;lupus erythematosus;see GM02634 (lymphoblastoid);XP1MI;46;XX;low level of UV induced unscheduled DNA synthesis;XP-associated neurologic abnormalities;a rarity in group C;the donor subject carries a point mutation that converts the proline at position 218 to histidine Pro218His (P218H) . The cell line is either homozygous or hemizygous for this mutation.

characteristic: description

characteristic: family id

text: proband

text: XPC

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

text: XPC

text: GM02096 female affected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND05077 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Basal cell nevus syndrome

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM02099 Lymphoid;clinically affected;fibroblasts are hypersensitive to cell killing by ionizing radiation

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: BCNS

characteristic: tag

text: Basal cell nevus syndrome

text: GM02098 male affected Basal cell nevus syndrome sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 52 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Male

text: Parkinson disease

text: ND05081 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Basal cell nevus syndrome

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM02098A 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: GM02099 male affected Basal cell nevus syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND05086 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Secondary amennorrhea

text: 46;X;der(X)(Xpter>Xq11::Yq11>Yqter);46;X;t(X;Y)(Xpter>Xq11::Yq11>Yqter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM02103 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND05087 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: Wolman disease

text: 3 MO

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient lysosomal acid lipase activity;CRM+ with antibodies to acid lipase;46;XY;5q+ in original culture;46;XY in Repository stock;slow growing culture;heterozygous for LIPA gene mutations c.193C>T(p.R65X) and c.256C>T(p.H86Y)

text: proband

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Wolman disease

characteristic: tag

text: GM02109 male affected Wolman disease sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND05093

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND05092 female affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Familial hypercholesterolemia

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Formerly GM01450;tendon xanthoma;premature myocardial infarctions;elevated cholesterol levels (above 400 mg%);expired before age 50

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: FHC

text: Familial hypercholesterolemia

text: GM02110 male affected Familial hypercholesterolemia sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND05092

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND05093 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 7 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fetus at 25% risk for Huntington's disease;46;XY

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Huntington disease

text: HD

text: GM02123 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinson disease

text: ND05101 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Hydroxymethylbilane synthase

text: 32 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Deficient uroporphyrinogen-I synthetase;active AIP;donor subject is heterozygous for a G>T transversion at nucleotide 277 in exon 7 of the HMBS gene (277G>T) resulting in the substitution of phenylalanine for valine at codon 93 Val93Phe (V93F);

text: HMBS

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Hydroxymethylbilane synthase

text: HMBS

text: Porphyria, acute intermittent

text: GM02124 female affected Hydroxymethylbilane synthase sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm unruptured: caucasian

characteristic: tag

text: Intracranial aneurysm - unruptured

text: ND05104 male affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line RPMI 1788;ATCC CCL 156;G6PD type B;HLA type A2;w33;B7;14;secretes IgM (Lambda chains);45;X;1p+/46;XY;62%/ 38%;karyotype is unstable with random chromosome loss/gain

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM02131 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND05116 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 65 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM00941 Fibroblast;deficient URO synthetase;latent carrier;Neutral Alpha-glucosidase C phenotype=1

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Porphyria

text: Acute intermittent

text: GM02133 male unaffected Porphyria sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND05123

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Young onset parkinsons panel: caucasian subjects from north america

text: PD

text: Parkinson disease

text: ND05122 male affected Young onset parkinsons panel: affected individuals sample


text: Coriell

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: See GM00940 Fibroblast;clinically normal;no URO synthetase deficiency;Neutral Alpha-glucosidase C phenotype=3-1

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

characteristic: tag

text: Porphyria, acute intermittent

text: GM02134 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND05123

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND05123 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Hydroxymethylbilane synthase

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM00939 Fibroblast;deficient uroporphyrinogen-I synthetase;active AIP;Neutral Alpha-glucosidase C phenotype=1;positive family history;donor subject is heterozygous for a C>T transition at nucleotide 583 in exon 10 of the HMBS gene (583C>T) resulting in the substitution of cysteine for arginine at codon 195 Arg195Cys (R195C)

characteristic: description

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: GM02135 female affected Hydroxymethylbilane synthase sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND05134 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 2 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Marker may be rec(5)(p1q1)mat;multiple congenital anomalies;mental retardation

text: proband

text: 47;XX;inv(5)(pter>p13::q13>p13::q13> qter)mat;+mar

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Inverted chromosome

text: GM02137 female unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND05136;unaffected father is ND05137

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND05135 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Basal cell nevus syndrome

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM02139B Lymph;clinically affected

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: BCNS

text: Basal cell nevus syndrome

text: GM02138 female affected Basal cell nevus syndrome sample


text: Coriell

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother of ND05135;unaffected spouse is ND05137

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND05136 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Basal cell nevus syndrome

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM02138 Fibroblast;clinically affected

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: BCNS

text: Basal cell nevus syndrome

text: GM02139 female affected Basal cell nevus syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 36 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND05135;unaffected spouse is ND05136

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND05137 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mother was also affected;see GM02147A Fibroblast;Neutral Alpha-glucosidase C phenotype=2-1

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Huntington disease

characteristic: tag

text: HD

text: GM02146 male affected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND05153 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Huntington disease

text: 55 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mother was also affected;see GM02146 Lymphoid

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM02147 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND05165

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from north america

text: PD

text: Parkinson disease

text: ND05164 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal wife;see GM02149A Fibroblast;Neutral Alpha-glucosidase C phenotype=1

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM02148 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND05164

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: ND05165 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 54 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal;see GM02148 Lymphoid

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM02149 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: same subject as ND31717

text: proband

text: Homo sapiens

text: Female

characteristic: sex

text: Parkinson disease

text: ND05178 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);see GM02151 Fibroblast;personality disorder but no chorea;Neutral Alpha-glucosidase C phenotype= 2-1

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM02150 female unaffected Huntington disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Female

text: ND05179 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);see GM02150 Lymphoid;personality disorder but no chorea

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM02151 female unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

text: Female

text: ND05180 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal widow of affected husband;proband not in Repository;see GM02153 Fibroblast

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM02152 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinson disease

text: ND05181 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 40 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal widow of affected husband;proband not in Repository;see GM02152A Lymphoid;46;XX;10% of cells show random chromosome loss

text: spouse

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM02153 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: IRISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease

text: ND05186 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);father had HD;see GM02155 Fibroblast

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Huntington disease

characteristic: tag

text: HD

text: GM02154 female unaffected Huntington disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND05187 male unaffected Control sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk (50%);father had HD;see GM02154B Lymphoid

characteristic: description

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM02155 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: African American

text: Male

text: Subarachnoid hemorrhage

text: ND05188 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 16 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);father had HD;see GM02157 Fibroblast

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM02156 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND05195

text: proband

text: Homo sapiens

text: African American

characteristic: race

text: Male

text: Epilepsy

text: ND05194 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 16 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);see GM02156 Lymphoid

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Huntington disease

text: HD

text: GM02157 female unaffected Huntington disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND05194

text: mother

text: Homo sapiens

text: African American

text: Female

characteristic: tag

text: ND05195 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);father had HD;see GM02159 Fibroblast

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM02158 female unaffected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND05203 male affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk (50%);father had HD;see GM02158 Lymphoid

characteristic: description

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM02159 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND05204 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);father had HD;see GM02161 Fibroblast

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM02160 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 7 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND05235;affected father is ND05236

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND05234 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);father had HD;see GM02160 Lymphoid

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Huntington disease

text: HD

text: GM02161 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother of ND05234;affected spouse is ND05236

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND05235 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);father had HD;see GM02163 Fibroblast

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

characteristic: tag

text: HD

text: GM02162 male unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected father of ND05234;unaffected spouse is ND05235

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND05236 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);father had HD;see GM02162 Lymphoid

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM02163 male unaffected Huntington disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND05249 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 58 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother & sister were also affected;onset at age 46;see GM02165A Fibroblast;46;XY

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM02164 male affected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND05254

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND05253 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Huntington disease

text: 57 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mother and sister were also affected;age of onset 46 years;see GM02164B Lymphoid;46;XY

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM02165 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND05253

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND05254 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Huntington disease

text: 58 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX/47;XX;+12: (74%/26%);proband for this family is GM02165 Fibroblast;see GM02167A Fibroblast

text: sister

text: 46;XX/47;XX;+12;47;XX;+12 13 /46;XX 37

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM02166 female affected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: PD

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND05256

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND05255 male affected PD sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 59 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM02166B Lymphoid;mother and brother are also affected

characteristic: description

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM02167 female affected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND05255

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: ND05256 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal spouse of GM02166B;see GM02169 Fibroblast

text: brother-in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM02168 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 17 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND05261;unaffected father is ND05262

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND05260 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 52 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Normal spouse of GM02167A;see also GM02168A Lymphoid;46;XY;10% of cells show random loss of 1 chromosome

text: brother-in-law

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM02169 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND05260;unaffected spouse is ND05262

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND05261 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);see GM02171 Fibroblast

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM02170 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected father of ND05260;unaffected spouse is ND05261

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND05262 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);see GM02170 Lymphoid

characteristic: description

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM02171 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 58 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND05265 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: See GM02173B Fibroblast;Neutral Alphaglucosidase C phenotype=1

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM02172 female affected Huntington disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Pacific Islander

characteristic: race

text: Male

text: Subarachnoid hemorrhage

text: ND05266 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Huntington disease

text: 52 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;see GM02172A Lymphoid;clinically affected

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Huntington disease

text: HD

text: GM02173 female affected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND05270 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;see GM02175 Fibro

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM02174 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND06664

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND05284 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 55 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM02174 Lymphoid;clinically normal;46;XY;12% of cells show random chromosome loss/gain;10% of cells have t(1;1)

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM02175 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND05291 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);see GM02177 Fibroblast;may show early chorea;has long standing personality problem

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Huntington disease

text: HD

text: GM02176 male unaffected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND05293

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND05292 male unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);see GM02176 Lymphoid;may show early chorea;has long standing personality problem

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

characteristic: tag

text: HD

text: GM02177 male unaffected Huntington disease 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: Unaffected spouse is ND05292

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND05293 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter of reduced at risk GM02186;reduced at risk

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM02178 female unaffected Huntington disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND05301 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected wife of proband

characteristic: description

text: spouse

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM02180 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Female

text: Parkinson disease

text: ND05304 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 21 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);see GM02183 Fibroblast

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM02182 female unaffected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Female

characteristic: sex

text: ND05305 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);see GM2182 Lymphoid

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM02183 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial rupture-status undefined

text: ND05314 male affected Intracranial rupture-status undefined sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal spouse of a Huntington's disease patient;46;XY;16% of cells show random chromosome loss;see GM02185B Fibroblast

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM02184 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND05318 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 36 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;normal spouse of a Huntington's disease patient;skin biopsy;see GM02184D Lymphoid;5% of cells show chromosome structural aberrations

characteristic: description

text: proband

text: 46;XY;46;XY;del(1)(pter>q21:);t(11;15)(11qter>11p15::15q24>15qter;15pter>15q24::11p15>11pter) 2 /46;XY;t(11;15)(11qter>11p15::15q24>15qter;15pter>15q24::11p15>11pter) 48 .ish t(11;15)(D11S2071-;D15S936+;D11S2071+;D15S936-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM02185 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND05319 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic at age 60;reduced at risk;see GM02187 Fibroblast

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Huntington disease

text: HD

text: GM02186 female unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND05321 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 60 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Asymptomatic at age 60;reduced at risk;see GM02186 Lymphoid

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM02187 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND05330 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal spouse of GM02186;see GM02189 Fibroblast

characteristic: description

text: brother-in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM02188 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND05331 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 63 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal spouse of GM02187;see GM02188 Lymphoid;46;XY;10% of cells show random chromosome loss

text: brother-in-law

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Huntington disease

text: Apparently healthy non-fetal tissue

text: HD

text: GM02189 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND05333 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);mother of GM02123 Fibroblast;see GM02191 Fibroblast

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Huntington disease

characteristic: tag

text: HD

text: GM02190 female unaffected Huntington disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND05357 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);see GM02190A Lymphoid

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM02191 female unaffected Huntington disease sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 58 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND05364 female affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 51 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;46;XY;inv(6);(pter>p24::p21>p24::p21>qter);formerly GM01515

characteristic: description

text: father

text: 46;XY;inv(6)(pter->p24::p21->p24:: p21->qter).arr 8p23.1(7174029-7836249)x3;16p12.2(21441804-21650621)x1;46;XY;inv(6)(pter>p24::p21>p24:: p21>qter)

text: Homo sapiens

text: Caucasian

text: Male

text: GM02205 male unaffected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 56 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinson disease

text: ND05373 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Variant;hydroxylysine deficient;not lysyl hydroxylase deficient;46;XX;inv(6)(pter>p24::p21>p24::p21>qter)pat;formerly GM01514

text: proband

text: 46;XX;inv(6)(pter->p24::p21->p24:: p21->qter)pat.arr 16p12.2(21441804-21686939)x1;46;XX;inv(6)(pter>p24::p21>p24:: p21>qter)pat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: GM02206 female affected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND05374 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;HLA type A1;B8;mother has Insulin-controlled and father has dietcontrolled diabetes

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02209 female unaffected Diabetes mellitus sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 57 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND05375 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Hydroxymethylbilane synthase

text: 62 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Deficient uroporphyrinogen-I synthetase;active AIP;donor subject is heterozygous for a C>T transition at nucleotide 499 in exon 10 of the HMBS gene (499C>T) resulting in the substitution of tryptophan for arginine at codon 167 Arg167Trp (R167W)

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: GM02213 female affected Hydroxymethylbilane synthase sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND05376 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 20 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;passage 4 at CCR;sister has typical infantile MLD

text: Homo sapiens

text: Caucasian

text: Male

text: Metachromatic leukodystrophy

characteristic: tag

text: GM02214 male unaffected Metachromatic leukodystrophy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND05377 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Dystonia 1, torsion

text: 30 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 24 yrs;on Lithium and Valium treatment

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Dystonia 1, torsion

text: GM02217 male affected Dystonia 1, torsion sample


text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND05378 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Alkaptonuria

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pedigree includes 2 affected brothers

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Alkaptonuria

text: GM02228 male affected Alkaptonuria sample


text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND05379 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Deficient uroporphyrinogen-I synthetase;latent carrier

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Porphyria

text: Acute intermittent

text: GM02229 female unaffected Porphyria sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND05380 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 58 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homo sapiens

text: Caucasian

text: Female

text: Porphyria

text: Acute intermittent

text: GM02230 female unaffected Porphyria sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND05381 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Hemoglobin--beta locus

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Greek;double heterozygote for hereditary persistence of fetal hemoglobin & B-thalassemia trait;46;XX;24% of cells show random chromosome loss;15% are polyploid;A-gamma globin chain synthesis predominates

text: GREEK

characteristic: ethnicity

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Hemoglobin--beta locus

text: HBB

text: GM02232 female affected Hemoglobin--beta locus sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND05382 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Genital tissue;see GM02242 Lymphoid;21-hydroxylase deficiency;salt-losing type;responsive to hydrocortisone treatment;donor subject has at least one allele with an A>G or C>G change at position -2 in the acceptor splice site of intron 2 resulting in an aberrant splice site being activated 7 bases upstream of the mutation in the CYP21A2 gene IVS2-13A/C>G

characteristic: description

text: proband

characteristic: gene

text: A/C>G

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM02241 female affected Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND05383 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 9 MO

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM02241 Fibroblast;21-hydroxylase deficiency;salt-losing type;responsive to hydrocortisone treatment;donor subject has at least one allele with an A>G or C>G change at position -2 in the acceptor splice site of intron 2 resulting in an aberrant splice site being activated 7 bases upstream of the mutation in the CYP21A2 gene IVS2-13A/C>G

text: proband

text: A/C>G

text: Homo sapiens

text: Caucasian

text: Female

text: GM02242 female affected Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND05384 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP1BE;46;XX;10-20% of normal UV induced unscheduled DNA synthesis in fibroblasts;see GM10881 (fibroblast);skin manifestations but no neurological abnormalities;developed freckles by age 2;1st tumor at age 4;by age 28;over 100 neoplasma;including malignant melanomas;developed;corneal edema;the donor subject carries a deletion of the dinucleotide AA at positions 1132 and 1133 in the cDNA of the XPC gene;resulting in premature termination of the protein by a new stop codon 15 nucleotides downstream. The deletion may be either homozygous or hemizygous.

characteristic: description

text: proband

text: XPC

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: XPC

text: GM02246 female affected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND05385 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 25 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP3BE;46;XY;10-20% of normal UV induced unscheduled DNA synthesis in fibroblasts;lymphoblastoid cell culture is hypersensitive to UV induced cell killing and mutagenesis;see GM00030 (fibroblast);no neurological abnormalities;the donor subject carries an 83-bp insertion starting at position 462 in the XPC cDNA.

text: proband

text: XPC

text: 83-BP INS

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM02248 male affected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 53 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: WELSH

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: PD

text: Parkinson disease

text: ND05396 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP8BE;46;XY;10-20% of normal UV induced unscheduled DNA synthesis in fibroblasts;similarly affected twin;see GM00671 (fibroblast);no neurological abnormalities;the donor subject carries two mutations in the XPC gene: one results in the insertion of a valine residue after valine at codon 580;while the other is a point mutation that created a nonconservative amino acid change near the carboxyl terminus of the protein. The cell line is either homozygous or hemizygous for these mutations.

characteristic: description

text: proband

text: XPC

characteristic: gene

text: CODON 580 AND LYS822GLN

characteristic: mutation

text: GGT

text: 3-BP INS

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: XPC

text: GM02249 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND05400 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 17 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP12BE;multiple skin cancers;acute sun sensitivity;progressive neurological degeneration;<2% of normal UV induced unscheduled DNA synthesis in fibroblasts;same patient as ATCC CRL 1223;see GM04429 (SV40 transformed fibroblast) and GM05509 (fibroblast);the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 with results in a missplice;the second allele carries a G-to-T transversion in intron 3 which abolishes the canonical 3-prime splice site and results in a missplice.

text: proband

text: XPA

text: G>T transversion in intron 3

text: Homo sapiens

text: Caucasian

text: Female

text: XPA

text: GM02250 female affected Xeroderma pigmentosum, complementation group a sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 24 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected father is ND05408;unaffected mother is ND05407

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

text: Epilepsy

text: ND05406 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: XPB

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP11BE;showed features of Cockayne syndrome;37% of normal UV induced unscheduled DNA synthesis in fibroblasts;HLA type: Aw32;w24;Bw40;B12;donor subject is homozygous for a C>A transversion in the splice acceptor sequence of the last intron of the ERCC3 gene.

characteristic: description

text: proband

characteristic: gene

text: FS

text: SPLICE ACCEPTOR C>A

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Xeroderma pigmentosum, complementation group b

text: XPB

text: Excision-repair: complementing defective in chinese hamster 3

text: GM02252 female affected XPB sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND05406;unaffected spouse is ND05408

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND05407 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP17BE;25% of normal UV induced unscheduled DNA synthesis in fibroblasts;46;XY;shows no increase above normals for chemical clastogen induced chromosome breakage;typical skin and neurologic abnormalities;onset at about age 10

characteristic: family id

text: proband

text: Homo sapiens

text: Black

text: Male

characteristic: tag

text: XPD

text: GM02253 male affected Xeroderma pigmentosum, complementation group d sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND05406;unaffected spouse is ND05407

text: father

text: Homo sapiens

text: African American

text: Male

text: ND05408 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample