characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 67 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND00747 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


status: PUBLIC

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Mucopolysaccharidosis type ii

tag: attribute

text: 18 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mild type;deficient iduronate sulfatase activity

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Mucopolysaccharidosis type ii

characteristic: tag

text: GM00614 male affected Mucopolysaccharidosis type ii sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND00773 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type ii

text: 9 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Severe type;deficient iduronate sulfatase activity;similarly affected sib

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type ii

text: GM00615 male affected Mucopolysaccharidosis type ii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial rupture-status undefined

text: ND00774 male affected Intracranial rupture-status undefined sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal mucopolysaccharide accumulation;2 affected sons;clinically unaffected mother of GM00615

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Mucopolysaccharidosis type ii

text: GM00620 female unaffected Mucopolysaccharidosis type ii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 57 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND00775 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;14% of cells show random chromosome loss/gain

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM00621 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND00776 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 38 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 22% of cells show an additional t(6;11)(q13;q23) subline

text: 46;XX;t(4;15)(4pter>4q11::15p11>15pter;15qter>15p11::4q11>4qter)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

characteristic: tag

text: GM00624 female unaffected Translocated chromosome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND00777 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 35 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Confirmed heterozygote;2 affected children

text: Homo sapiens

text: Caucasian

text: Male

text: Homocystinuria

text: GM00625 male unaffected Homocystinuria sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND00778 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 30 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;son has multiple anomalies and unbalanced translocation

characteristic: description

text: 46;XX;t(13;22)(13pter>13q22::22q13> 22qter;22pter>22q13::13q22>13qter)

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

text: GM00627 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND00789 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Culture is moderately growth inhibited when medium lacks uridine;more severely inhibited when adenosine is added to uridine-deficient medium

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: GM00632 female affected Oroticaciduria types i or ii - 258900 or 258920 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 58 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND00790 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 8 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Congenital malformations;severe retardation;see GM00044 Fibroblast;deletion of 7p21.2p22.1

text: proband

text: 46;XY;der(7)(7qter>7p21.2::10q11.21>10qter);der(10)(10pter>10q11.21::7p22.1>7pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: Chromosome deletion

text: Copy number variation (cnv) refernece panel 02

text: GM00633 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND00791 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Fabry disease

text: 18 FW

text: Amniotic fluid-derived cell line

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;Alpha-galactosidase deficient;classic phenotype;donor subject is hemizygous for a 3 bp out of frame deletion at nucleotide 1187 in exon 7 of the GLA gene 1187delAAG

characteristic: description

text: GLA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Galactosidase, alpha

text: Fabry disease

text: GLA

text: GM00636 male affected Fabry disease sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected sister is ND00542;unaffected niece is ND01061

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Parkinsons panel: caucasian from north america

characteristic: tag

text: PD

text: Parkinson disease

text: ND00793 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 18 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: SV40 transformed GM00037A;Puerto Rican;T-antigen positive;43% of cells are diploid;57% are tetraploid;all cells have t(7;7)(p22;q22) and random abnormalities

text: PUERTO RICAN

characteristic: ethnicity

text: proband

text: 40% of cells are diploid;modal no = 44;60% are tetraploid;modal no = 86;markers 2q+;6q+;t(7;7) & 15p+;40% of cells are hypo-diploid or diploid;modal no.=44 chromosomes;60% are hypo-tetraploid or hyper-tetraploid;modal no.=86;in multiple cells are del(1)(q12);add(2)(q37);del(7)(p11.2);t(7;7)(p22;q22);add(14)(p11.2);add(15)(p11.2);del(19)(q13.2) and add(21)(p11.2);also found were multiple random aberrations in every cell;40-47;X;-1 2;add(2)(pter>q37::? 5;-6 2;t(7;7)(7qter>7p22::7q22>7qter;7pter>7q22::7p22>7pter 5;-10 4;-11 2;-13 4;-15 2;add(22)(qter>p13::?);+mar 2 cp5 /79;XXX-88;XX;-1 5;-2 4;add(2)(pter>q37::?) 4;-3 4;-4 5;-5 2;-6 5;i(6)(pter>p10::p10>pter) 4;del(7)(q12) 2;t(7;7)(7qter>7p22::7q22>7qter;7pter>7q22::7p22>7pter) 5;-8 5;-10 5;-11 3;-12 3;-13 5;-14 3;-15 3;add(15)(qter>p13::?);-16 5;add(16)(qter>p13::?);-17 2;-18 3;-19 4;-21 3;-22 3;+mar 5 cp5;43% of cells are diploid;modal no.= 44 chromosomes;57% are tetraploid;modal no.= 86;t(7;7)(p22;q22) in 100% of cells;43% of cells are diploid;modal no.=44 chromosomes;57% are tetraploid;modal no.=86;t(7;7) in 100% of cells

text: Homo sapiens

text: Caucasian

text: Female

text: GM00637 female unaffected Sv40 virus-transformed 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

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND00812 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Galactosemia

text: 3 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: SV40 transformed GM00054;Gal-1-P uridyl transferase absent post-crisis;G6PD type B;T-antigen positive;see GM01907 Fibroblast and GM02795A Lymphoid;hypodiploid;unstable karyotype with random rearrangements and 3 marker chromosomes

characteristic: description

text: proband

text: Modal no.of chromosomes is 44. All cells have t(Y;13);t(7;21) & an abnormal chromosome #5;6% polyploid

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Galactosemia

text: GM00638 male affected Galactosemia sample


text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND00813 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mother of GM00357;carrier level of arylsulfatase A;clinically unaffected;sister has 3 children with infantile MLD

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Metachromatic leukodystrophy

characteristic: tag

text: GM00640 female unaffected Metachromatic leukodystrophy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial rupture-status undefined

text: ND00814 female affected Intracranial rupture-status undefined sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Mucopolysaccharidosis type iiia

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient heparan sulfate sulfatase;compound heterozygote;one allele carries the delC mutation at nucleotide 1091 in the SGSH (mps3a) gene (1091delC);no changes detected in the other allele

text: SGSH

characteristic: gene

characteristic: mutation

text: 1-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type iiia

text: N-sulfoglucosamine sulfohydrolase

text: SGSH

text: GM00643 male affected Mucopolysaccharidosis type iiia sample


text: Coriell

text: live

text: Generic

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND00817

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

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

text: PD

text: Parkinson disease

text: ND00816 male affected Young onset parkinsons panel: affected individuals sample


text: Coriell

text: live

text: Generic

text: Fanconi anemia, complementation group a

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Complementation group A;decreased colony-forming ability and cell survival following exposure to mitomycin-C;clinically affected

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Fanconi anemia, complementation group a

text: FANCA

text: GM00646 female affected Fanconi anemia, complementation group a sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00816

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND00817 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Ataxia-telangiectasia

text: 17 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Neurologic disability and dramatic telangiectasia;elevated serum alpha-fetoprotein;slow growing culture

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM00647 male affected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND00820 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 15 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Neurologic disability and dramatic telangiectasia;elevated serum alpha-fetoprotein;random chromosome abnormalities in 60% of cells karyotyped;46;XY

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM00648 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND00821 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 9 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Elevated urine leu;ileu;and val;delayed psychomotor develop;abnormal EEG;deficient BCKD (BCKAD) complex activity;posititve for cross-reactive material for BCKD (BCKAD) complex subunits E1A;E2;and E3;E1A (BCKDE1A or BCKDHA) gene shows 8-bp deletion in exon 7/Y438N (formerly designated Y393N) mutations

characteristic: description

text: proband

text: BCKDHA

characteristic: gene

characteristic: mutation

text: TYR438ASN (FORMERLY TYR393ASN)

text: 8-BP DEL

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: BCKDHA

text: Maple syrup urine disease (msud) type ia

text: GM00649 male affected Branched-chain keto acid dehydrogenase e1, alpha polypeptide sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND00826 male affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 30-60% of normal branched-chain alphaketo acid decarboxylase activity;clinically unaffected father of GM00649A;heterozygous for Y438N (formerly designated Y393N) mutation of the BCKDHA gene

text: father

text: BCKDHA

text: TYR438ASN (FORMERLY TYR393ASN)

text: Homo sapiens

text: Caucasian

text: Male

text: BCKDHA

text: GM00650 male unaffected Branched-chain keto acid dehydrogenase e1, alpha polypeptide sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 28 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: African American

text: Female

text: ND00827 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 30-60% of normal branched-chain alphaketo acid decarboxylase activity;clinically unaffected mother of GM00649;heterozygous for an 8-bp deletion in exon 7 of the BCKDHA gene

characteristic: description

text: mother

text: BCKDHA

characteristic: gene

characteristic: mutation

text: 8-BP DEL

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: BCKDHA

text: GM00651 female unaffected Branched-chain keto acid dehydrogenase e1, alpha polypeptide sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: PD

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected son is ND00834

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00832 male affected PD sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Mannosidase, alpha, class 2b member 1

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deficient alpha-mannosidase;Finnish;mild clinical phenotype;psychomotor retardation after age 1 year;recurring infections;hearing loss;impaired speech;coarse facial features;donor subject is a compound heterozygote: one allele has a C>T transition in exon 15 of the MAN2B1 gene resulting in the substitution of a termination signal for glutamine at codon 639 Gln639Ter (Q639X);the second allele has a C>T transition at nucleotide 2248 in exon 18 (2248C>T) resulting in the substitution of tryptophan for arginine at codon 750 Arg750Trp (R750W)

text: FINNISH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: Mannosidosis alpha b, lysosomal

text: Mannosidase, alpha, class 2b member 1

text: GM00654 male affected Mannosidase, alpha, class 2b member 1 sample


text: Coriell

text: live

text: Generic

text: 54 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Affected father is ND00832

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND00834 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 4 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Cleft palate;microcephaly;developmental delay;similarly affected cousin;clinically normal mother has balanced t(7;18) in lymphocytes;deletion of 7q34 q36

characteristic: description

text: 46;XY;der(7)(7pter>7q34::18q12.2>18qter)mat;der(18)(18pter>18q12.2::7q36>7qter) or del(18)(pter>q12.2)mat.ish der(7)(G31340-);der(18) or del(18)(G31340-);46;XY;der(7)(7pter>7q34::18q12.2>18qter)mat;der(18)(18pter>18q12.2::7q36>7qter)mat

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

text: GM00657 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial rupture-status undefined

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: husband

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

text: Intracranial rupture-status undefined

text: ND00850 male affected Intracranial rupture-status undefined sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: ARH

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lebanese;large xanthomas;product of consanguineous mating;fasting plasma total cholesterol of 580 milligram per microliter;LDLR activity in fibroblasts was 60-70% of normal controls;three affected sibs: GM00694;GM00696;GM00697;donor subject is homozygous for a C-to-T transition at nucleotide 406 (c.406C>T) in exon 4 of the ARH gene;resulting in a nonsense mutation in codon 136;a glutamine-to-ter substitution Gln136TER (Q136X) .

text: LEBANESE

characteristic: ethnicity

text: proband

text: ARH

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Arh gene

text: ARH

text: Hypercholesterolemia autosomal recessive

text: GM00667 male affected ARH sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: ND00851 male affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP8BE;ATCC CRL 1158;10-20% of normal UV induced unscheduled DNA synthesis;see GM02249 (lymphoblastoid);similarly affected twin and 2 brothers;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

characteristic: family id

text: proband

text: XPC

text: CODON 580 AND LYS822GLN

text: GGT

text: 3-BP INS

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: XPC

text: GM00671 male affected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND00853 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: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP4SL;3 brothers are also affected

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM00673 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: half-brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial rupture-status undefined

text: ND00854 male affected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

text: 15 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP9BE;ATCC CRL 1161;10-20% of normal UV induced unscheduled DNA synthesis;see GM02498B Lymphoid;similarly affected twin and 2 brothers

text: twin

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM00676 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND00855 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP2BE;ATCC CRL 1166;19% of normal UV induced unscheduled DNA synthesis;3 affected brothers

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM00677 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND00857 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Mucopolysaccharidosis type ii

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient iduronate sulfatase activity

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type ii

text: GM00690 male affected Mucopolysaccharidosis type ii sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND00858 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mentally retarded;DNA contains single copies of amyloid precursor protein locus (APP) and D21S46 locus and 2 copies of D21S39 locus

text: proband

text: 45;XY;der(2)(2pter>2q37::21q21>21qter)mat;-21;45;XY;der(2;21)(2pter->2q37::21q21->21qter)mat.arr 2q37.3(242327570-242738117)x1;8p23.1(7254762-7814028)x1;21q11.2q21.3(13322592-26477119)x1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM00692 male unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND00859 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 27 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Two daughters have the clinical features of Down syndrome;a son is mentally retarded;and 1 child is clinically normal

text: mother

text: 46;XX;t(2;21)(2pter>2q37::21q21>21qter;21pter>21q21::2q37>2qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Trisomy 21

text: Translocated chromosome

text: GM00693 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND00860 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: ARH

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lebanese;large xanthomas;product of consanguineous mating;fasting plasma total cholesterol of 445 milligram per microliter;three affected sibs: GM00667;GM00696;GM00697;donor subject is homozygous for a C-to-T transition at nucleotide 406 (c.406C>T) in exon 4 of the ARH gene;resulting in a nonsense mutation in codon 136;a glutamine-to-ter substitution Gln136TER (Q136X) .

characteristic: description

text: LEBANESE

characteristic: ethnicity

characteristic: family id

text: sister

text: ARH

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Arh gene

text: ARH

text: Hypercholesterolemia autosomal recessive

text: GM00694 female affected ARH sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND00861 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 55 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lebanese;4 affected children;father of GM00667;GM00694;GM00696;and GM00697;fasting plasma total cholesterol less than 250 milligram per microliter;donor subject is heterozygous for a C-to-T transition at nucleotide 406 (c.406C>T) in exon 4 of the ARH gene;resulting in a nonsense mutation in codon 136;a glutamine-to-ter substitution Gln136TER (Q136X) .

text: LEBANESE

text: father

text: ARH

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Arh gene

text: ARH

text: GM00695 male unaffected ARH sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND00863 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: ARH

text: 5 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lebanese;product of a consanguineous mating;fasting plasma total cholesterol of 500 milligram per microliter;large xanthomas;3 affected sibs;GM00667;GM00694;GM00697;donor subject is homozygous for a C-to-T transition at nucleotide 406 (c.406C>T) in exon 4 of the ARH gene;resulting in a nonsense mutation in codon 136;a glutamine-to-ter substitution Gln136TER (Q136X) .

characteristic: description

text: LEBANESE

characteristic: ethnicity

characteristic: family id

text: sister

text: ARH

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Arh gene

text: ARH

text: GM00696 female affected ARH sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

text: ND00864 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: ARH

text: 17 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lebanese;large xanthomas;product of a consanguineous mating;fasting plasma total cholesterol of 440 milligram per microliter;LDLR activity in fibroblasts was 60-70% of normal controls;3 affected sibs;GM00667;GM00694;GM00696;donor subject is homozygous for a C-to-T transition at nucleotide 406 (c.406C>T) in exon 4 of the ARH gene;resulting in a nonsense mutation in codon 136;a glutamine-to-ter substitution Gln136TER (Q136X) .

text: LEBANESE

text: brother

text: ARH

text: Homo sapiens

text: Caucasian

text: Male

text: Arh gene

text: ARH

text: GM00697 male affected ARH sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 62 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

text: ND00873 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 45 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: LDL receptor activity approximately 36% of value obtained with control fibroblasts;mother of GM00701C

characteristic: description

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: FHC

characteristic: tag

text: Familial hypercholesterolemia

text: GM00700 female unaffected Familial hypercholesterolemia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND00877 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Familial hypercholesterolemia

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Receptor negative;approximately 10 fold increase in HMG CoA reductase in fibroblasts;LDL receptor activity < 1% of value obtained with normal cells

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: FHC

text: Familial hypercholesterolemia

text: GM00701 female affected Familial hypercholesterolemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND00878 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 10 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Patient with failure to thrive;culture is slow growing

text: 46;X;t(X;9)(Xpter>Xq12::9p24>9pter;9qter>9p24::Xq12>Xqter);arr(1-22;X)x2

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM00705 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND00880 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: CTNS

text: 1 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Pedigree includes an affected sib;donor subject is homozygous for a 57-kb deletion (also reported as a 65-kb del) in the CTNS gene that removes the first 10 exons 57-kb del .

text: CTNS

characteristic: gene

text: 57-KB DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Cystinosis, nephropathic

text: CTNS

text: Cystinosin

text: GM00706 male affected CTNS sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND00881 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

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP21RO;Dutch;10 to 15% of normal post UV light induced unscheduled DNA synthesis

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM00709 male affected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND00882 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 1 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: De Sanctis-Cacchione;XP25RO;ATCC CRL 1261;0 to 5% of normal post UV light induced unscheduled DNA synthesis;the donor subject is homozygous for a C-to-T substitution at nucleotide 619 (619C>T) which alters the Arg-207 codon (CGA) to a nonsense codon (TGA) in exon 5 of the XPA gene Arg207Ter (R207X) .

text: proband

text: XPA

text: Homo sapiens

text: Caucasian

text: Male

text: XPA

text: GM00710 male affected Xeroderma pigmentosum, complementation group a sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND00883 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: TD

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibroblast culture (cartilage);clinically affected;same patient as GM00712;00713;and 00714;donor subject has a C>T transition at nucleotide 742 in exon 6 of the FGFR3 gene (742C>T) resulting in a substitution of cysteine for arginine at codon 248 Arg248Cys (R248C)

characteristic: family id

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: TD

text: Thanatophoric dysplasia

text: Fibroblast growth factor receptor 3

text: GM00711 male affected TD sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND00884 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: TD

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibroblast culture (spleen);same pt as GM00711;donor subject has a C>T transition at nucleotide 742 in exon 6 of the FGFR3 gene (742C>T) resulting in a substitution of cysteine for arginine at codon 248 Arg248Cys (R248C)

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: TD

text: Thanatophoric dysplasia

text: Fibroblast growth factor receptor 3

text: GM00712 male affected TD sample


text: Coriell

text: live

text: Generic

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND00885 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: TD

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Fibroblast culture (lung);same patient as GM00711;donor subject has a C>T transition at nucleotide 742 in exon 6 of the FGFR3 gene (742C>T) resulting in a substitution of cysteine for arginine at codon 248 Arg248Cys (R248C)

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: TD

text: Thanatophoric dysplasia

text: Fibroblast growth factor receptor 3

text: GM00713 male affected TD sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND00886 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: TD

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibroblast culture (skin);same pt as GM00711;donor subject has a C>T transition at nucleotide 742 in exon 6 of the FGFR3 gene (742C>T) resulting in a substitution of cysteine for arginine at codon 248 Arg248Cys (R248C)

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: TD

text: Thanatophoric dysplasia

text: Fibroblast growth factor receptor 3

text: GM00714 male affected TD sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

characteristic: tag

text: Intracranial aneurysm - unruptured

text: ND00892 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Ataxia-telangiectasia

text: 9 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two sibs are also affected

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM00718 male affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND00898 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;two sibs also affected;lymphoid culture shows hypersensitivity to X irradiation

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: GM00719 female affected Ataxia-telangiectasia sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Male

text: Subarachnoid hemorrhage

text: ND00899 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Homocystinuria

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient cystathionine synthetase activity

text: Homo sapiens

text: Caucasian

text: Male

text: Homocystinuria

characteristic: tag

text: GM00720 male affected Homocystinuria sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND00900 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Homocystinuria

text: 11 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Deficient cystathionine synthetase activity;formerly GM00547

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Homocystinuria

text: GM00721 female affected Homocystinuria sample


text: Coriell

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND00902 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Homocystinuria

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically atypical;formerly GM00548

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Homocystinuria

text: GM00722 male affected Homocystinuria sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND00925 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Homocystinuria

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

text: Caucasian

text: Male

text: Homocystinuria

text: GM00724 male affected Homocystinuria sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND00926 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of GM00722

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Homocystinuria

characteristic: tag

text: GM00725 female unaffected Homocystinuria sample


text: Coriell

text: live

text: Generic

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND00936 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 26 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Korean;skin biopsy (forearm);46;XX;8% of cells show random chromosome loss/gain

text: KOREAN

characteristic: ethnicity

characteristic: karyotype

text: Homo sapiens

text: Asian

text: Female

text: Apparently healthy non-fetal tissue

text: GM00726 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND00940

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00939 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 2 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: No detectable transferase activity in erythrocytes;GALT gene mutations: Gln188Arg (Q188R) / Gln188Arg (Q188R)

text: GALT

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: GALT

text: Galactosemia

text: GM00727 female affected Galactose-1-phosphate uridylyltransferase sample

characteristic: title


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: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00940

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Neurologically normal caucasian control update of plate ndpt008

characteristic: tag

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND00940 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 14 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;76% of cells show r(13);ring is unstable;slow growing culture

text: 45;XY;-13/46;XY;r(13);46;XY;r(13) 31 /45;XY;-13 17 /46;XY;r(13);t(3;5)(3pter>3q13::5q32>5qter;5pter>5q32::3q13>3qter) 2 .ish r(13)(wcp13+;D13Z1+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Ring chromosome

text: GM00729 male unaffected Ring chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

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: ND00942 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 45 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (forearm);formerly GM00238;46;XX/92;XXXX;42%/58%

characteristic: description

text: proband

text: 46;XX;92;XXXX 29 /46;XX 21

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM00730 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

text: Caucasian

text: Male

text: ND00946 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 96 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;skin biopsy

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM00731 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Asian

text: Male

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND00947 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Sensory neuropathy type unknown

text: 1 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Non-Jewish;more severe than classical form

text: Homo sapiens

text: Caucasian

text: Male

text: Sensory neuropathy type unknown

text: GM00732 male affected Sensory neuropathy type unknown sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND00948 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM00733 male affected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND00949 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Turner syndrome

characteristic: description

text: 46;X;idic(X)(qter>p11.2::p11.2>qter);inv(2) (pter>p11::q13>p11::q13>qter);t(3;9)(9pter>9p22::3p21>3qter;3pter>3p21::9p22>9qter) 3 /46;X;idic(X)(qter>p11.2::p11.2>qter);inv(2)(pter>p11::q13>p11::q13>qter) 7;46;X;idic(X)(qter>p11::p11>qter);inv(2) (pter>p11::q13>p11::q13>qter);arr Xp22.33p11.1(108464-52927933)x1;Xp11.22q28(53086710-154887040)x2 3;8p23.1(7254762-7825360)x1;22q12.3q13.33(32495977-49406499)x2 3

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Isodicentric chromosome

text: Turner syndrome

text: Inverted chromosome

text: GM00735 female unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: PD

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00968 male affected PD sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;3 affected children;clinically unaffected

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM00736 male unaffected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: 63 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND00972 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type iiib

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Deficient N-acetyl-alpha-glucosaminidase;donor subject is a compound heterozygote: one allele has a T>G transversion at nucleotide 2045 in the NAGLU gene (2045T>G) resulting in the substitution of arginine for leucine at codon 682 Leu682Arg (L682R) and the second allele has an A>G transversion at nucleotide 419 (419A>G) resulting in a substitution of cysteine for tyrosine at codon 140 Try140Cys (Y140C)

text: NAGLU

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: NAGLU

text: Mucopolysaccharidosis type iiib

text: N-acetylglucosaminidase, alpha-

text: GM00737 male affected Mucopolysaccharidosis type iiib sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial rupture-status undefined

text: ND00973 female affected Intracranial rupture-status undefined sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hektoen variant of G6PD;46;XY;18% of cells are polyploid at passage 9;G6PD is negative for 563T(Ser188Phe)S188F;844C(Asp282His)D282H;202A(Val68Met) V68M;and 376G(Asn126Asp)N126D mutations

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Glucose-6-phosphate dehydrogenase

text: GM00738 male unaffected Glucose-6-phosphate dehydrogenase sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND00974 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

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX;increased UV light-induced sister chromatid exchanges and cell killing;patient is CS1AN;complementation group B;donor subject is a compound heterozygote: one allele has an A>T transversion at nucleotide 1088 in exon 5 of the ERCC6 gene (1088A>T) resulting in premature truncation of the protein Lys377Ter (K377X);the second allele has a C>T transition at nucleotide 2648 in exon 15 (2648C>T) triggering an erroneous splice event resulting in a frameshift Arg857Ter (R857X)

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: CSB

characteristic: tag

text: Excision-repair cross-complementing group 6

text: Cockayne syndrome type b

text: GM00739 female affected ERCC6 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected brother is ND02075

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND00977 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM00740 female affected Rhizomelic chondrodysplasia punctata type 1 sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND00979 female affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Phosphoglycerate kinase 1

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Japanese;nonspherocytic hemolytic anemia;cerebral palsy;mentally deficient;decreased muscle and erythrocyte PGK activity;expired at age 9;variant PGK (Matsue);5% of normal fibroblast PGK activity;normal PGK mRNA level;possible increased rate of PGK degradation

text: JAPANESE

characteristic: ethnicity

text: Homo sapiens

text: Asian

text: Male

text: Phosphoglycerate kinase 1

text: GM00743 male affected Phosphoglycerate kinase 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND00999 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 1 DA

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX;negative family history;multiple fractures of extremities;skull;and ribs present at birth;lethal;normal fibroblast alkaline phosphatase activity

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: LETHAL

text: GM00744 female affected Osteogenesis imperfecta: genetics uncertain sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND01000 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Hyperglycinemia

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Hyperglycinemia

text: Isolated nonketotic type i

text: GM00747 female affected Hyperglycinemia sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01001 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 model

text: Homocystinuria

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient cystathionine synthetase activity;2 similarly affected brothers

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Homocystinuria

text: GM00751 male affected Homocystinuria sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND01002 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Homocystinuria

text: 23 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Homocystinuria

text: GM00752 male affected Homocystinuria sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

characteristic: tag

text: ND01003 male affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Confirmed heterozygote;3 affected children;clinically unaffected father of GM00751;00752;and 00885

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Homocystinuria

text: GM00753 male unaffected Homocystinuria sample


text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND01004 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: CTNS

text: 24 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibroblasts also available from bone marrow;kidney;thymus;liver;thyroid;and amnion;slow growing culture;increased intracellular cystine in fibroblasts;donor subject is homozygous for a G>A transition at nucleotide 753 in exon 7 of the CTNS gene 753G>A resulting in a substitution of a termination codon for tryptophan at codon 138 Trp138Ter (W138X) .

characteristic: description

text: proband

text: CTNS

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Cystinosis, nephropathic

text: CTNS

text: Cystinosin

text: GM00760 male affected CTNS sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND00410

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND01024 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: CF

text: 13 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mild;no pancreatic insufficiency;first diagnosed at age 4 months;a sib died from CF at age 10;see GM00897 Lymphoid;46;XY;4% of cells show random chromosome loss;1 allele has the F508 deletion mutation Phe508DEL

text: proband

text: CFTR

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM00768 male affected CF sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 22 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND01027 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: CF

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Classic pulmonary and pancreatic involvement;no diabetes;1 spontaneous pneumothorax;donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL)

characteristic: description

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM00770 male affected CF sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND01028 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Ataxia-telangiectasia

text: 4 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two sibs are also affected

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM00781 female affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND01034 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Fibrodysplasia ossificans progressiva

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected

characteristic: description

text: Homo sapiens

text: Black

text: Male

text: Fibrodysplasia ossificans progressiva

characteristic: tag

text: FOP

text: GM00783 male affected Fibrodysplasia ossificans progressiva sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND01035 male affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Alpha-l-iduronidase

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient alpha-L-iduronidase;Hurler syndrome;passage 3 at CCR;homozygous for a TGG>TAG change at nucleotide 1293 in exon 9 of the IDUA gene Trp402Ter (W402X)

text: proband

text: IDUA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Hurler syndrome

text: IDUA

text: Alpha-l-iduronidase

text: GM00798 female affected Alpha-l-iduronidase sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Juvenile autosomal recessive

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND01037 is homozygous for a parkin exon 4 deletion;this deletion segregates as homozygous recessive in terms of causing Parkinson Disease. The brain MRI and CT scan for ND01037 were normal. ND01037 is an affected son of ND01039 (heterozygous carrier of parkin exon 4 deletion;has Essential Tremor Syndrome);and an affected brother of ND01038 and ND01040. The family history includes 2 other affected siblings (samples not available);and is indicated in pedigree NINDS0104. Dogu et al. 2004 characterizes this cosanguineous family (Movement Disorders 19: 812-828);see Kitada et al. 1998 (Nature 392: 605-608) for more about parkin exon 4 deletion and its role in Parkinson Disease.

text: TURKISH

characteristic: ethnicity

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PARKIN

text: PDJ

text: Parkinson disease

text: Juvenile autosomal recessive

text: ND01037 male affected Juvenile autosomal recessive sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 22 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Passage 3 at CCR;clinically unaffected mother of child;GM00798;with Hurler syndrome;affected daughter is homozygous for W402X mutation of IDUA

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Hurler syndrome

text: GM00799 female unaffected Hurler syndrome sample


text: Coriell

text: live

text: Generic

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: ND01038;like ND01040;is an unaffected sibling of ND01037 (Parkinson

characteristic: description

text: TURKISH

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND01038 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 27 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Passage 3 at CCR;clinically unaffected father of child;GM00798;with Hurler syndrome;affected daughter is homozygous for W402X mutation of IDUA

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Hurler syndrome

text: GM00800 male unaffected Hurler syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Essential tremor-movement disorder

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND01039 (Essential Tremor Syndrome;heterozygous for exon 4 deletion in parkin) is the father of ND01037 (Parkinson Disease;homozygous exon 4 deletion in parkin);ND01038;and ND01040. ND01039 is father of a total of three affected children out of seven from a consanguineous marriage (only one affected sib has a sample banked: ND01037). Dogu et al. 2004 characterizes this family (Movement Disorders 19: 812-828);see also Kitada et al. 1998 (Nature 392: 605-608 for more about parkin exon 4 deletion and its role in Parkinson Disease. This family is described in pedigree NINDS0104.

text: TURKISH

characteristic: ethnicity

characteristic: family id

text: father

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Essential tremor-movement disorder

text: PARKIN

text: ND01039 male affected Essential tremor-movement disorder sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Fucosidosis

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type II;Spanish-American;alpha-L-fucosidase deficient

text: SPANISH AMERICAN

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Fucosidosis

text: GM00801 male affected Fucosidosis sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 51 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: ND01040;like ND01038;is an unaffected sibling of ND01037 (Parkinson;s). May be carrier of parkin exon 4 deletion;this deletion appears to segregate as homozygous recessive in terms of causing PD;Dogu et al.;2004

text: TURKISH

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01040 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Fucosidosis

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type II;Spanish-American;alpha-L-fucosidase deficient;positive family history

characteristic: description

text: SPANISH AMERICAN

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Fucosidosis

characteristic: tag

text: GM00802 male affected Fucosidosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: PD

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND01042;unaffected daughter is ND01043

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01041 female affected PD sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Unusual facies

text: 46;XY;del(1)(pter>q21.3::q23>qter);inv(1)(pter>p13::q12>p13::q12>qter);arr 1q22q24.2(154552137-167853570)x1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM00803 male unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND01041;unaffected daughter is ND01043

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND01042 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Cystinosis, nephropathic

text: 22 FW

characteristic: age

characteristic: cell line

text: Amniotic fluid-derived cell line

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;increased intracellular level of 1/2 cystine;passage 3 at CCR

text: Homo sapiens

text: Caucasian

text: Male

text: Cystinosis, nephropathic

text: CTNS

text: GM00804 male affected Cystinosis, nephropathic sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND01042 and ND01041

characteristic: description

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND01043 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Confirmed heterozygote

characteristic: family id

text: maternal first cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Homocystinuria

characteristic: tag

text: GM00813 male unaffected Homocystinuria sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01048 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: Sea-blue histiocyte disease

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Similarly affected sib;normal fibroblast activity for phospholipase A1;A2;and C;acid lipase;and sphingomyelinase

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Sea-blue histiocyte disease

text: GM00843 female affected Sea-blue histiocyte disease sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND01049 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Sea-blue histiocyte disease

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Similarly affected sister

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Sea-blue histiocyte disease

text: GM00844 male affected Sea-blue histiocyte disease sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 62 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND01050 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Secondary amenorrhea subsequently resolved spontaneously;mother has no history of amenorrhea

text: proband

text: 46;XX;t(2;8)(2pter>2q37::8q13>8qter;8pter>8q13::2q37>2qter)mat;46;XX;t(2;8)(2pter>2q37::8q13>8qter;8pter>8q13::2q37>2qter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM00845 female unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND01051 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 54 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple spontaneous abortions

characteristic: description

characteristic: family id

text: mother

text: 46;XX;t(2;8)(2pter>2q37::8q13>8qter;8pter>8q13::2q37>2qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM00846 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND01052 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Lesch-nyhan syndrome

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Line LN-SV;SV40 transformed GM02063;G6PD type A;> 95% of cells are T-antigen positive;HPRT deficient;two affected brothers

text: maternal cousin

text: Homo sapiens

text: Black

text: Male

text: LNS

text: Lesch-nyhan syndrome

text: GM00847 male affected Lesch-nyhan syndrome sample


text: Coriell

text: live

text: Generic

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND01053 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 26 YR

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

text: Caucasian

text: Male

text: GM00850 male affected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected father is ND01056

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND01054 male affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Gaucher disease type i

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Adult;6% of control fibroblast glucocerebrosidase activity;donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 1226 in exon 9 of the GBA gene 1226A>G resulting in a subtitution of serine for asparagine at codon 370 Asn370Ser (N370S) and a second allele has an insertion of a second guanine at cDNA nucleotide 84 84_85insG;84GG (codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG).

text: proband

text: GBA

characteristic: gene

text: 1-BP INS

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Gaucher disease type i

text: GBA

text: Glucosidase acid beta

text: GM00852 male affected Gaucher disease type i sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND07576;unaffected father is ND01056;affected brother is ND07578;unaffected brother is ND07577.

characteristic: description

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: Epilepsy

text: ND01056 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 1 DA

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Turner syndrome

text: 45;X;arr Xp22.33q28(108464-154887040)x1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Turner syndrome

text: GM00857 female unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 65 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND01059

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND01058 female affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Culture grows slowly

text: proband

text: 46;XX;der(5)(5pter>5q15:: 1q25>1q32::5q15>5qter)pat;arr 1q24.3q32.1(169664176-197548632)x3

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Chromosome insertion

text: GM00860 female unaffected Chromosome insertion sample


text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND01058

characteristic: description

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND01059 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: father

text: 46;XY;ins(5;1)(5pter>5q15::1q25>1q32:: 5q15>5qter;1pter>1q25::1q32>1qter)

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome insertion

characteristic: tag

text: GM00861 male unaffected Chromosome insertion sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 73 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter is ND01346

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01060 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Mucopolysaccharidosis type ii

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mild type;similarly affected half brother;Puerto Rican;excessive mucopolysaccharide accumulation correctable by Hunter factor

text: PUERTO RICAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Mucopolysaccharidosis type ii

text: GM00862 male affected Mucopolysaccharidosis type ii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 37 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected daughter of ND00542

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND01061 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Wolman disease

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Latin American;two similarly affected sisters;less than 5% of normal acid lipase activity in fibroblasts;CRM+ with antibodies to acid lipase;heterozygous for LIPA gene mutations c.290C>G (p.T97R) and c.353G>A (p.G118D)

text: LATIN AMERICAN

text: proband

text: LIPA

characteristic: gene

text: Ex4 c.290C>G

characteristic: mutation

text: Ex4 c.353G>A

text: Homo sapiens

text: Caucasian

text: Female

text: Wolman disease

text: GM00863 female affected Wolman disease sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Essential tremor-movement disorder

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: NINDS0020 Son of ND01098 and ND01099;additional family members included in the NINDS Repository: ND00062;ND00138;ND00139;ND00144;ND00145;ND00062;ND00195;ND00196;ND00502;and ND00503;as well as those in the NIGMS Repository (GM15010;GM15009;and

characteristic: description

characteristic: family id

text: maternal first cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Essential tremor-movement disorder

text: ND01097 male affected Essential tremor-movement disorder sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 22 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Severe mental retardation and congenital anomalies

text: 46;XX;del(9)(qter>p13:);46;XX;del(9)(qter>p13:).ish del(9)(9pter30-;D9Z5+);arr 9p24.3p21.3(36586-22768696)x1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

characteristic: tag

text: GM00870 female unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 83 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Has three affected siblings not in the NINDS collection;spouse of ND01099;additional family members included in the NINDS Repository: ND00062;ND00138;ND00139;ND00144;ND00145;ND00062;ND00195;ND00196;ND00502;and ND00503;as well as those in the N

text: maternal uncle

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND01098 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Cobalamin B mutant;B12 responsive

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: GM00876 male affected Methylmalonicaciduria, vitamin b12-responsive due to defect in synthesis of adenosylcobalamin--cbl b sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: Spouse of ND01098;additional family members included in the NINDS Repository: ND00062;ND00138;ND00139;ND00144;ND00145;ND00062;ND00195;ND00196;ND00502;and ND00503;as well as those in the NIGMS Repository (GM15010;GM15009;and GM15845)

characteristic: family id

text: aunt-in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND01099 female unaffected Neurologically normal caucasian control panel sample