text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 63 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;reduced at risk;husband of GM7413Z;father of GM7199;GM7209;GM7211;and GM7269;see GM7423 Lymphoid

text: maternal uncle

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM07424 male unaffected Major affective disorder - 125480 or 309200 sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND12808

characteristic: description

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND12806 female unaffected Population/convenience control sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Hemoglobin--beta locus

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mediterranean;B-thalassemia;donor subject is a compound heterozygote: one allele has a G>A change at position 110 of intron 1 in the HBB gene IVS1;G>A;+110 (beta plus);the second allele has a nonsense mutation;changing the beta-39 codon from glutamine to a stop codon Gln39Ter (Q39X);beta zero

text: HBB

characteristic: gene

characteristic: mutation

text: G>A

text: Homo sapiens

text: Caucasian

text: Male

text: Hemoglobin--beta locus

text: HBB

text: GM07425 male affected Hemoglobin--beta locus sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected Spouse is ND12806

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Als panel lower-limb onset

text: Als panel lower-limb onset probable and possible als

text: Amyotrophic lateral sclerosis 1

text: ND12808 male affected ALS1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Hemoglobin--beta locus

text: 4 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Chinese;B-thalassemia;donor subject is a compound heterozygote: one allele has a C>T change at position 654 of intron 2 in the HBB gene IVS2;C>T;+654 (beta zero);the second allele has a 1 bp insertion between codons 71 and 72 (insA codons71/72)

text: CHINESE

characteristic: ethnicity

text: HBB

text: 1-BP INS

text: A

text: C>T

text: BETWEEN CODONS 71 AND 72

text: Homo sapiens

text: Asian

text: Male

text: Hemoglobin--beta locus

text: HBB

text: GM07426 male affected Hemoglobin--beta locus sample


text: Coriell

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffectd spouse of ND10689

characteristic: description

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND12809 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Hemoglobin--beta locus

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Greek;B-plus-thalassemia;donor subject is a compound heterozygote: one allele has a C>G change at position 745 of intron 2 in the HBB gene;detectable with Rsa I;creating a new acceptor splice site (IVS2;C>T;+654);the second allele has a T>C change at position 6 of the donor site consensus sequence of intron 1 (IVS1;T>C;+6)

text: GREEK

text: HBB

characteristic: gene

text: T>C

characteristic: mutation

text: C>G

text: Homo sapiens

text: Caucasian

text: Male

text: Hemoglobin--beta locus

text: HBB

text: GM07428 male affected Hemoglobin--beta locus sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 33 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12815

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND12811 female unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 13292

text: GM07431 male unaffected Ceph/utah pedigree 13292 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12817

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND12813 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 13293

text: GM07432 male unaffected Ceph/utah pedigree 13293 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 32 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12811

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND12815 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 13291

text: GM07433 male unaffected Ceph/utah pedigree 13291 sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 56 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND12812

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND12816 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother;Sister of 13292-01

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 13294

text: GM07434 female unaffected Ceph/utah pedigree 13294 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12813

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND12817 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather Same as 13292-10;13293-10;& 13294-11

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

text: International hapmap project - ceph (plate ii) utah residents with ancestry from northern and western europe

text: Ceph/utah pedigree 13291

text: GM07435 male unaffected Ceph/utah pedigree 13291 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Progressive bulbar palsy

text: 73 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12819

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive bulbar palsy

text: ND12819 male affected Progressive bulbar palsy sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 13292

text: GM07436 female unaffected Ceph/utah pedigree 13292 sample


text: Coriell

text: live

text: Generic

text: 69 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12819

characteristic: description

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12820 female unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 13293

text: GM07437 female unaffected Ceph/utah pedigree 13293 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND12824 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;3 affected children;negative for the F508;G551D;R553X;G542X;and N1303K mutations

text: AFRICAN-AMERICAN

text: mother

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

text: CF

text: Cystic fibrosis

text: GM07439 female unaffected Cystic fibrosis sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND12829

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12828 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Cystic fibrosis

text: 32 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Elevated sweat chloride;pulmonary involvement;2 similarly affected sibs;neither allele shows F508 deletion mutation

characteristic: description

characteristic: family id

text: brother

text: Homo sapiens

text: Black

text: Male

text: CF

text: Cystic fibrosis

text: GM07440 male affected Cystic fibrosis sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12828

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND12829 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: CFTR

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Elevated sweat chloride;pulmonary involvement;2 similarly affected sibs;donor subject is a compound heterozygote: one allele of the CFTR gene carries a G-to-A substitution at 3120+1 in intron 16 (3120+1G>A );a second allele of the CFTR gene carries a G-to-T substitution at 621+1 in intron 4 (621+1G>T);both mutations result in mRNA splicing defects;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T;donor subject is also heterozygous for a C>T mutation at nucleotide 677 in exon 4 of the methylenetetrahydrofolate reductase (MTHFR) gene 677C>T that results in a substitution of a valine for an alanine at codon 222 Ala222Val (A222V)

text: proband

text: CFTR;MTHFR

characteristic: gene

text: +1 (3120+1G>A)

characteristic: mutation

text: G>A

text: Homo sapiens

text: Black

text: Female

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

text: CF

text: Cystic fibrosis

text: MTHFR

text: Cystic fibrosis transmembrane conductance regulator

text: 5,10-methylenetetrahydrofolate reductase

text: CFTR

text: GM07441 female affected CFTR sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND12831

text: proband

text: Homo sapiens

text: African American

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12830 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Hemoglobin--beta locus

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Greek;B-zero-thalassemia;donor subject is homozygous for a splice junction mutation: a G>A change at position 1 in intron 2 of the HBB gene which is detectable with endonuclease Hph I (IVS2;G>A;+1)

characteristic: description

text: GREEK

characteristic: ethnicity

text: HBB

text: G>A

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Hemoglobin--beta locus

text: HBB

text: GM07444 female affected Hemoglobin--beta locus sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12838

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND12837 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Hemoglobin--beta locus

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Italian-Irish;B-zero-thalassemia;donor subject is a compound heterozygote: one allele has a splice junction mutation;a G>A change at position 1 in intron 2 of the HBB gene which is detectable with endonuclease Hph I (IVS2;G>A;+1);the second allele has a nonsense mutation;changing the beta-39 codon from glutamine to a stop codon Gln39Ter (Q39X)

text: ITALIAN/IRISH

text: HBB

characteristic: gene

characteristic: mutation

text: G>A

text: Homo sapiens

text: Caucasian

text: Male

text: Hemoglobin--beta locus

text: HBB

text: GM07445 male affected Hemoglobin--beta locus sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Longitudinal Data

text: proband

text: Homo sapiens

text: African American

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12838 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 27 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected brother & son;mother of GM07447B;GM08093;& GM07448A

characteristic: description

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: PMD

text: Pelizaeus-merzbacher disease

text: GM07446 female unaffected Pelizaeus-merzbacher disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: ND12878 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Pelizaeus-merzbacher disease

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asian/Caucasian;progressive white matter loss;optic atrophy;epilepsy;quadriplegia;dementia;leukodystrophy;son of GM07446B

text: nephew

text: Homo sapiens

text: More than one race

text: Male

text: PMD

characteristic: tag

text: Pelizaeus-merzbacher disease

text: GM07447 male affected Pelizaeus-merzbacher disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

text: ENGLISH;SCOTTISH;IRISH

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND12885 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 3 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter of GM07446B;Asian/Caucasian;clinically unaffected;affected brother & maternal uncle;possible heterozygote

text: niece

text: Homo sapiens

text: More than one race

text: Female

text: PMD

text: Pelizaeus-merzbacher disease

text: GM07448 female unaffected Pelizaeus-merzbacher disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 82 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffeced parent of ALS proband ND09711

text: IRISH

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND12886 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;daughter is GM05319 Fibroblast

characteristic: description

text: mother

text: 46;XX;t(9;13)(9pter>9q31.2::13q32.1> 13qter;13pter>13q32.1::9q31.2>9qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM07456 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12906

characteristic: family id

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND12904 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Healthy;has had two consecutive miscarriages at the 12th week of gestation

text: 46;XX;t(1;21)(1pter>1q12::21q22.3> 21qter;21pter>21q22.3::1q12>1qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM07457 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 50 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12906 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;2 affected siblings;tested negative for F508 deletion mutation and R553X mutation

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: CF

text: Cystic fibrosis

text: GM07458 male unaffected Cystic fibrosis sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12912

characteristic: family id

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND12909 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Cystic fibrosis

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 2 wks when asymptomatic by positive sweat test;currently on Pancrease;bronchodilators;& intermittent antibiotics;50 %ile for height & weight;similarly affected sister

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: CF

text: Cystic fibrosis

text: GM07459 male affected Cystic fibrosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12909

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND12912 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 40 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;2 affected children;1 allele has the F508 deletion mutation PHE508DEL

text: father

text: CFTR

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM07460 male unaffected CF sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND08532

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND12923 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;2 affected children;1 allele has the R553X mutation ARG553TER

text: mother

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM07461 female unaffected CF sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: ND12925 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND12926 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 70 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Possible heterozygote;2 affected grandchildren;clinically unaffected

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM07462 male unaffected Cystic fibrosis sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND12928 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 allele has the R553X mutation ARG553TER;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T

characteristic: description

text: maternal uncle

text: CFTR

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM07464 male unaffected CF sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12946

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND12945 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Possible heterozygote;clinically unaffected

text: maternal uncle

text: Homo sapiens

text: Caucasian

text: Male

text: CF

characteristic: tag

text: Cystic fibrosis

text: GM07465 male unaffected Cystic fibrosis sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 55 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND12945

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND12946 male unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: family id

text: paternal uncle

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: CF

text: Cystic fibrosis

text: GM07466 male unaffected Cystic fibrosis sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 36 MO

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND12948 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: paternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: GM07467 female unaffected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND12967 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: paternal uncle

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: CF

text: Cystic fibrosis

text: GM07468 male unaffected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12968

text: unaffected spouse

text: Homo sapiens

text: African American

text: Female

text: Control

characteristic: tag

text: Ndpt111 - neurologicaly normal african american conrol panel

text: Population/convenience control

text: Ndpt031- african american control panel

text: ND12969 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: CF

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 6 on basis of abnormal stools;persistent cough and rales;weight loss;and positive sweat test;on Pancrease;bronchodilators;and intermit antibiotics;50-75 percentile for height and weight;similarly affected brother;donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (PHE508DEL) and a second allele carries a C-to-T substitution at nucleotide 1789 (1789C>T) which converts the arg-553 codon (CGA) to a stop codon (TGA);resulting in a nonsense mutation in exon 11 in the CFTR gene ARG553TER (R553X)

text: proband

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM07469 female affected CF sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND12984

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Primary lateral sclerosis

text: ND12974 male affected Primary lateral scleroris: caucasian, non-hispanic sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Cystic fibrosis

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two affected sibs;positive sweat test at age 9 with no findings of severe pulmonary or gastrointestinal disease

characteristic: description

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: CF

text: Cystic fibrosis

text: GM07480 female affected Cystic fibrosis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND14669

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND12975 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 5 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: AT1PX;cerebellar ataxia;questionable telangiectasias;chronic respiratory infection;low IgA;developed Burkitt lymphoma;expired at age 5;46;XY;with numerous rearrangements &/or deletions & increased breakage

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM07481 male affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12974

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12984 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Bilateral;onset at age 5;loss of visual acuity;constricted visual fields;similarly affected sister;pedigree suggests recessive inheritance;see GM07483 Fibroblast

text: JEWISH

characteristic: ethnicity

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM07482 male affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND13001 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 47 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Bilateral;onset at age 5;loss of visual acuity;constricted visual fields;similarly affected sister;pedigree suggests recessive inheritance;see GM07482 Lymphoid

characteristic: description

text: JEWISH

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM07483 male affected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 82 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13004

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND13002 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Hydatidiform mole

text: 13 FW

characteristic: cell line

text: Tumor-derived cell line

text: NIGMS Human Genetic Cell Repository

text: 46;XX;(n pat.)2;culture requires specialty medium used for growing amniocytes

text: FILIPINO

text: 47;XXX 5 /47;XX;+20 3 /46;XX 42;arr(1-22;X)x2 hmz

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Hydatidiform mole

characteristic: tag

text: GM07489 female affected Hydatidiform mole sample


text: Coriell

text: live

text: Generic

text: 80 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND13002

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND13004 female unaffected Population/convenience control sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Isovalericacidemia

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Intermittent vomiting & lethargy followed by transient alopecia & pancytopenia;no foul odor;urine organic acid analysis showed excessive isovalerylglycine;developmental delay;physical weakness;negative family history

text: Homo sapiens

text: Black

text: Male

text: IVA

text: Isovalericacidemia

text: GM07490 male affected Isovalericacidemia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinsons panel: caucasian from north america

text: PD

text: Parkinson disease

text: ND13015 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 17 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM07492 Fibroblast;46;XY;12% of cells show random chromosome loss/gain

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM07491 male unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 66 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND13016 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 17 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: See GM7491 Lymphoid

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM07492 male unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

text: live

text: Generic

text: 84 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND13029 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;2 brothers are affected;a maternal uncle is mentally retarded by family history;positive for fra(X) in PBL;carrier female by Southern analysis

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Fragile x mental retardation syndrome

text: GM07494 female unaffected Fragile x mental retardation syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13048

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND13045 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 22 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;2 maternal uncles are clinically affected;negative for fra(X) in PBL;normal female by Southern analysis

characteristic: description

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Fragile x mental retardation syndrome

text: GM07495 female unaffected Fragile x mental retardation syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13049

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND13046 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 29 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;2 maternal uncles are clinically affected;negative for fra(X) in PBL;normal male by Southern analysis

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Fragile x mental retardation syndrome

text: GM07496 male unaffected Fragile x mental retardation syndrome sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND13045

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND13048 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Polyps;desmoids;fibromas;epidermoid cysts;osteomas;dental abnormalities;and adenomas;affected father;brother;and children;see GM06965 Fibro;46;XX in lymph cell culture;culture shows persistence of chromatid damage after x-irradiation;donor subject has a 2 bp deletion at nucleotide 4611 in codon 1537 exon 15 of the APC gene (4611_4612delAG) leading to a premature termination at proline 1542 Pro1542Ter (P1542X)

characteristic: family id

text: mother

text: APC

characteristic: gene

characteristic: karyotype

text: CODON 1538

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM07499 female affected Adenomatous polyposis of the colon sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13046

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13049 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 23 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Dental abnormalities;multiple polyposis;multiple osteomas;multiple fibromas;multiple epidermoid cysts;& desmoids;see GM06855 Fibro;46;XY in lymph cell cult;culture shows persistence of chromatid damage after x-irradiation;donor subject has a 2 bp deletion at nucleotide 4611 in codon 1537 exon 15 of the APC gene (4611_4612delAG) leading to a premature termination at proline 1542 Pro1542Ter (P1542X)

characteristic: description

text: proband

text: APC

text: CODON 1538

text: 2-BP DEL

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: APC

text: Adenomatous polyposis of the colon

text: GM07500 male affected Adenomatous polyposis of the colon sample


text: Coriell

text: live

text: Generic

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel: caucasians from north america lower-limb onset

characteristic: tag

text: Als panel lower-limb onset definite and probable als

text: Amyotrophic lateral sclerosis 1

text: ND13056 male affected ALS1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Polyps;desmoids;fibromas;epidermoid cysts;osteomas;dental abnormalities;& adenomas;46;XX;see GM06964 Fibroblast;culture shows persistence of chromatid damage after x-irradiation;donor subject has a 2 bp deletion at nucleotide 4611 in codon 1537 exon 15 of the APC gene (4611_4612delAG) leading to a premature termination at proline 1542 Pro1542Ter (P1542X)

text: sister

text: APC

characteristic: gene

characteristic: karyotype

text: CODON 1538

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM07501 female affected Adenomatous polyposis of the colon sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13056

text: unaffected spouse

text: Homo sapiens

text: Asian

text: Female

text: Control

text: Population/convenience control

text: ND13059 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: 10 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Congenital heart disease;growth and mental retardation;alacrima;unusual triangular facies;strabismus;frontal bossing;simple;low set;posteriorly rotated ears;hypotonia

characteristic: description

text: PORTUGUESE

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Translocated chromosome

text: GM07503 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND13078

text: SWEDISH;FINISH

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND13077 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Wernicke-korsakoff syndrome

text: 50 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Australian;5 year history of excess alcohol intake;confusion;confabulation;no short term memory;alcoholic liver disease;normal neurological examination

text: AUSTRALIAN

text: Homo sapiens

text: Caucasian

text: Male

text: Wernicke-korsakoff syndrome

text: GM07504 male affected Wernicke-korsakoff syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13077

text: GERMAN AND SWEDISH

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13078 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Wernicke-korsakoff syndrome

text: 52 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Australian;drinking heavily for many years;C.T. scan showed moderate cerebral atrophy;unsteady gait and severe ankle edema;memory deficit

text: AUSTRALIAN

text: Homo sapiens

text: Caucasian

text: Female

text: Wernicke-korsakoff syndrome

text: GM07505 female affected Wernicke-korsakoff syndrome sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND13079 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Wernicke-korsakoff syndrome

text: 60 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Australian

characteristic: description

text: AUSTRALIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Wernicke-korsakoff syndrome

text: GM07506 male affected Wernicke-korsakoff syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND13079

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND13080 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Wernicke-korsakoff syndrome

text: 63 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Australian

text: AUSTRALIAN

text: Homo sapiens

text: Caucasian

text: Male

text: Wernicke-korsakoff syndrome

characteristic: tag

text: GM07507 male affected Wernicke-korsakoff syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13099

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13098 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Wernicke-korsakoff syndrome

text: 64 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Australian

text: AUSTRALIAN

text: Homo sapiens

text: Caucasian

text: Male

text: Wernicke-korsakoff syndrome

text: GM07508 male affected Wernicke-korsakoff syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffeced spouse of ND13098

text: mother from Ireland;Father is native am-cherokee

text: unaffected spouse

text: Homo sapiens

text: More than one race

text: Female

text: Control

text: Population/convenience control

text: ND13099 female unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 23 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;son of GM07511B and 07518

characteristic: description

text: maternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: APC

text: Adenomatous polyposis of the colon

text: GM07509 male unaffected Adenomatous polyposis of the colon sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 47 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Asymptomatic sibling is ND13113

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13114 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Multiple polyposis;osteomas;fibromas;& epidermoid cysts;dental abnormalities;daughter of GM07511B & 07518;donor subject has a 2 bp deletion at nucleotide 4611 in codon 1537 exon 15 of the APC gene (4611_4612delAG) leading to a premature termination at proline 1542 Pro1542Ter (P1542X)

text: maternal cousin

text: APC

characteristic: gene

text: CODON 1538

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: APC

characteristic: tag

text: Adenomatous polyposis of the colon

text: GM07510 female affected Adenomatous polyposis of the colon sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND13131 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: Adenomatous polyposis of the colon

text: 47 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mult polyposis;osteomas;fibromas;and epidermoid cysts;desmoids;dent abnorm;fath of GM07509;07510;07512;07515;07516;& 07517;46;XY/46;XY;t(14;22) (q32.3;q11.2);6%/94%;cult shows persistent chromatid damage after x-irrad;donor subject has a 2 bp deletion at nucleotide 4611 in codon 1537 exon 15 of the APC gene (4611_4612delAG) leading to a premature termination at proline 1542 Pro1542Ter (P1542X)

text: maternal uncle

text: APC

text: 46;XY;t(14;22)(14pter>14q32.3:: 22q11.2>22qter;22pter>22q11.2::14q32.3> 14qter) 47 /46;XY 3;46;XY/46;XY;t(14;22)(14pter>14q32.3:: 22q11.2>22qter;22pter>22q11.2::14q32.3> 14qter)

characteristic: karyotype

text: CODON 1538

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

text: APC

text: Adenomatous polyposis of the colon

text: GM07511 male affected Adenomatous polyposis of the colon sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 33 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND13132 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Multiple osteomas;fibromas;& epidermoid cysts;daughter of GM07511B & 07518;culture shows persistence of chromatid damage after x-irradiation;donor subject has a 2 bp deletion at nucleotide 4611 in codon 1537 exon 15 of the APC gene (4611_4612delAG) leading to a premature termination at proline 1542 Pro1542Ter (P1542X)

characteristic: description

text: maternal cousin

text: APC

characteristic: gene

text: CODON 1538

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM07512 female affected Adenomatous polyposis of the colon sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND13133 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: 51 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;father & 2 sibs are affected;mother of GM07514

characteristic: family id

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM07513 female unaffected Adenomatous polyposis of the colon sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: asymptomatic relative is ND13134

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13135 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;daughter of GM07513

characteristic: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM07514 female unaffected Adenomatous polyposis of the colon sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13182

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND13181 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;son of GM07511B & 07518

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: APC

text: Adenomatous polyposis of the colon

text: GM07515 male unaffected Adenomatous polyposis of the colon sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13181

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND13182 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 17 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Multiple fibromas & epidermoid cysts;daughter of GM07511B & 07518;culture shows persistence of chromatid damage after x-irradiation;donor subject has a 2 bp deletion at nucleotide 4611 in codon 1537 exon 15 of the APC gene (4611_4612delAG) leading to a premature termination at proline 1542 Pro1542Ter (P1542X)

characteristic: family id

text: maternal cousin

text: APC

characteristic: gene

text: CODON 1538

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM07516 female affected Adenomatous polyposis of the colon sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: asymptomatic relative is ND13189 longitudinal data

text: proband

text: Homo sapiens

characteristic: organism

text: Other

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13184 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Multiple osteomas & fibromas;desmoids;46;XX;8% of cells show random chromosome loss & 7% are polyploid;daughter of GM07511B & 07518;donor subject has a 2 bp deletion at nucleotide 4611 in codon 1537 exon 15 of the APC gene (4611_4612delAG) leading to a premature termination at proline 1542 Pro1542Ter (P1542X)

characteristic: description

text: maternal cousin

text: APC

characteristic: karyotype

text: CODON 1538

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM07517 female affected Adenomatous polyposis of the colon sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

text: spousal control of proband ND13187

text: spouse

text: Homo sapiens

text: Other

characteristic: race

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND13186 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal spouse of GM07511B;mother of GM07509;07510;07512;07515;07516;& 07517

characteristic: family id

text: in-law

text: Homo sapiens

text: Caucasian

text: Female

text: APC

characteristic: tag

text: Adenomatous polyposis of the colon

text: GM07518 female unaffected Adenomatous polyposis of the colon sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 23 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND13186

text: proband

text: Homo sapiens

text: Other

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13187 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM07522 Fibroblast;46;XX;6% of cells show random chromosome loss

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM07521 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: cousin of proband ND13184

characteristic: description

text: cousin

text: Homo sapiens

text: Female

text: ND13189 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM07521 Lymphoid;46;XX;12% of cells show random chromosome loss

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM07522 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: ND13205 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 17 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Recurrent coma;dicarboxylicaciduria;less than 10% of normal medium-chain Acyl CoA Dehydrogenase activity;non-ketotic hypoglycemia;see GM06125 Fibro;homozygous for 985A>G {Lys304Glu (K304E)} mutation of ACADM (MCAD)

text: proband

text: ACADM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: ACADM

text: Acyl-coa dehydrogenase, medium-chain

text: GM07523 female affected ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 73 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial rupture-status undefined

text: ND13206 female affected Intracranial rupture-status undefined sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM07525 Fibroblast;46;XX;10% of cells show random chromosome loss

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM07524 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: spousal control is ND13263

text: IRISH

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND13212 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 22 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM7524 Lymphoid

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM07525 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: IRISH

text: control family

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND13246 female unaffected Control sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Cystic fibrosis

text: 27 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Positive sweat test;bronchiectasis;aspermia;no pancreatic disease;three affected sibs

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM07526 male affected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Als panel bulbar onset all definite als

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND13259

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel bulbar onset all definite als

text: Amyotrophic lateral sclerosis 1

text: ND13258 female affected Als panel bulbar onset all definite als sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Possible heterozygote;2 affected grandchildren;clinically unaffected

characteristic: family id

text: paternal grandfather

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: CF

text: Cystic fibrosis

text: GM07527 male unaffected Cystic fibrosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13258

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND13259 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Adrenoleukodystrophy

text: 26 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Adrenomyeloneuropathy;adrenal insuffic;hyperreflexia;progress spastic paraparesis;occasional nausea & vomiting;increased freq of urination;elevated levels of C26 fatty acids in plasma & fibro;negative family history

text: Homo sapiens

text: Caucasian

text: Male

text: Adrenoleukodystrophy

text: ALD

text: GM07530 male affected Adrenoleukodystrophy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13212

text: IRISH

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND13263 female unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Adrenoleukodystrophy

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Adrenomyeloneuropathy;adrenal insuffic since age 11;unsteady gait since age 13;slt wkness & hyperreflexia since age 19;bro has mild spastic paraparesis;mother had progressive paraparesis;elev level of C26 fatty acid in plasma & fibr

text: Homo sapiens

text: Caucasian

text: Male

text: Adrenoleukodystrophy

text: ALD

text: GM07531 male affected Adrenoleukodystrophy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 51 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND13269 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Caucasian mother and Japanese father;see GM7533 Lymphoid

characteristic: description

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Other

text: Female

text: Apparently healthy non-fetal tissue

text: GM07532 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND13270 male affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Caucasian mother and Japanese father;see GM07532A Fibroblast;46;XX;14% of cells show random chromosome loss

text: proband

text: Homo sapiens

text: Other

text: Female

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM07533 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

text: NINDS Repository

text: MIDDLE EASTERN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

text: ND13279 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 15 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 46;XY;4% of cells show random chromosome loss

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM07535 male unaffected Apparently healthy individuals with normal psychiatric evaluations sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND13280 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;possible normal carrier;46;XY in PBL;normal male by Southern & PCR analyses;CGG repeat is 23

characteristic: description

text: maternal cousin

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM07536 male unaffected Fmr1 gene sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13295

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND13292 female unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 64 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;sister of GM07536;1 affected son and 2 affected grandsons;positive for fra(X) in PBL;carrier female by Southern and PCR analyses;PCR analysis shows that 1 allele has CGG repeats of 28-29 and a second allele possibly has the full mutation with greater than 200 repeats

text: maternal cousin

text: (CGG)n EXPANSION

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM07537 female unaffected Fmr1 gene sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND13291

characteristic: family id

text: spouse

text: Homo sapiens

text: Other

text: Female

text: Control

text: Population/convenience control

text: Ninds repository hispanic control plate- coaims tested

text: ND13294 female unaffected Control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;1 affected brother;daughter of GM07537A;negative for fra(X) in PBL;normal female by Southern and PCR analyses;CGG repeats are 29 and 29

characteristic: description

text: maternal cousin

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM07538 female unaffected Fmr1 gene sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 64 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spousal control is ND13292

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13295 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 66 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;brother of GM07536;46;XY in PBL;normal male by Southern & PCR analyses;CGG repeat is 23

text: maternal cousin

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

characteristic: tag

text: Fragile x mental retardation syndrome

text: GM07539 male unaffected Fmr1 gene sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: IRISH;ENGLISH;ITALIAN;SCOTTISH

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND13296 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;sister of GM07536;negative for fra(X) in PBL;normal female by Southern and PCR analyses;CGG repeats are 29 & 23

characteristic: description

text: maternal cousin

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM07540 female unaffected Fmr1 gene sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 80 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND13332 male unaffected Population/convenience control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;daughter of GM07540;negative for fra(X) in PBL;normal female by Southern and PCR analyses;CGG repeats are 31and 29

text: maternal cousin

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Fmr1 gene

characteristic: tag

text: Fragile x mental retardation syndrome

text: GM07541 female unaffected Fmr1 gene sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND13339 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;twin of GM07536;46;XY in PBL;normal male by Southern & PCR analyses;CGG repeat is 23

characteristic: description

text: maternal cousin

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM07542 male unaffected Fmr1 gene sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse of ND13349

text: unaffected spouse

text: Homo sapiens

text: Other

text: Female

text: Control

text: Population/convenience control

text: ND13348 female unaffected Control sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 24 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;5 sibs with mental retardation;mother is affected sister of GM07536;negative for fra(X) in PBL;normal female by Southern & PCR analyses;CGG repeats are 29 & 20

text: maternal cousin

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM07543 female unaffected Fmr1 gene sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 76 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND13349 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM07545 Fibroblast;46;XX;4% of cells show random chromosome loss

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM07544 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Asian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND13357 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM7544 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM07545 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 75 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse is ND13367

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13366 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 5 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Puerto Rican;chronic acidosis;cerebral calcifications;poor weight gain;& mild developmental delay;parents are first cousins;deficient RBC carbonic anhydrase II activity

text: PUERTO RICAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM07546 male affected Osteopetrosis with renal tubular acidosis sample


text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13379

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel: caucasians from north america lower-limb onset

characteristic: tag

text: Als panel lower-limb onset definite and probable als

text: Amyotrophic lateral sclerosis 1

text: ND13377 male affected ALS1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Heterozygote level of RBC carbonic anhydrase II activity;clinically unaffected;1 affected child

text: PUERTO RICAN

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: GM07547 female unaffected Osteopetrosis with renal tubular acidosis sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse of ND13377

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND13379 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;clinically unaffected;sibling of a type I bipolar female;see GM07551A Fibroblast

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM07550 female unaffected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse is ND13392

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND13391 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 40 YR

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At risk;sibling of a type I bipolar female;clinically unaffected;see GM7550 Lymphoid

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM07551 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse of ND13391

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND13392 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: CF

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Positive family history in both parent's families;positive sweat test;lung biopsy showed bronchiectasis;chronic interstitial inflammation;fibrosis;and mucous gland hyperplasia and focal dilation;a sib with CF died at age 8;donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (Phe508DEL) and a second allele carries a C-to-T substitution at nucleotide 1789 (1789C>T) which converts the arg-553 codon (CGA) to a stop codon (TGA);resulting in a nonsense mutation in exon 11 in the CFTR gene Arg553TER (R553X);analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T

text: proband

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

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

characteristic: tag

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM07552 female affected CF sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: first cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

text: ND13407 male affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

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: Two affected children;1 affected niece & cousin;clinically unaffected;heterozygous for the F508 deletion mutation PHE508DEL

text: mother

text: CFTR

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM07553 female unaffected CF sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: unaffected spouse is ND11326

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND13408 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;3 affected children;negative for the F508;G551D;R553X;G542X;and N1303K mutations

text: AFRICAN-AMERICAN

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Black

text: Male

text: CF

text: Cystic fibrosis

text: GM07554 male unaffected Cystic fibrosis sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: aunt

text: Homo sapiens

characteristic: organism

text: Female

characteristic: tag

text: ND13425 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal sweat test;three affected sibs;possible heterozygote

text: sister

text: Homo sapiens

text: Black

characteristic: race

text: Female

characteristic: sex

text: CF

text: Cystic fibrosis

text: GM07555 female unaffected Cystic fibrosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: aunt

text: Homo sapiens

text: Other

text: Female

text: ND13426 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Normal sweat test;3 affected sibs;possible heterozygote

characteristic: description

text: brother

text: Homo sapiens

text: Black

text: Male

text: CF

text: Cystic fibrosis

text: GM07556 male unaffected Cystic fibrosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND13428 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: sister

text: Homo sapiens

text: Black

text: Female

text: CF

text: Cystic fibrosis

text: GM07557 female unaffected Cystic fibrosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse of ND13440

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND13435 female unaffected Control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two affected children;1 affected cousin;clinically unaffected;heterozygous for the R553X mutation ARG553TER

text: father

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: CF

text: Cystic fibrosis

text: CFTR

text: GM07674 male unaffected CF sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 74 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse of ND13441

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND13436 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Adrenoleukodystrophy

text: 22 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Adrenomyeloneuropathy;neurologically normal until age 20;urinary tract dysfunction and mild spasticity in legs since age 22;abnormal EEG with posterior slowing;elevated levels of C26 fatty acids in plasma and fibroblasts;positive family history

characteristic: description

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Adrenoleukodystrophy

text: ALD

text: GM07675 male affected Adrenoleukodystrophy sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND13435

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Als panel upper-limb onset probable and possible als

text: Amyotrophic lateral sclerosis 1

text: ND13440 male affected Ndpt116 - als panel: caucasians from north america upper-limb onset sample