text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter-in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND10039 female unaffected Control panel for young onset parkinsons: unaffected individuals sample

characteristic: title


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

tag: attribute

text: 47 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: second cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND10055 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP30BE;severe actinic damage of skin;freckling;actinic keratoses;keratoacanthomas;see GM05791 Lymphoid;donor subject is a compound heterozygote: the maternal allele has a 2 bp deletion at nucleotide 1208 in exon 8 of the XPC gene (1208_1209delAA) resulting in a frameshift at codon 368 and a stop 5 codons downstream (Q368fsX373);the paternal allele has a 2 bp deletion at nucleotide 1744 in exon 8 (1744_1745delTG) resulting in a frameshift at codon 547 and a stop 25 codons downstream (H547fsX572)

characteristic: description

text: proband

text: XPC

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM05792 male affected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND10071 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: History of arthritis & coronary artery disease;see GM05794 Fibroblast

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Wilson disease

text: GM05793 male unaffected Wilson disease sample


text: Coriell

text: live

text: Generic

text: Ischemic stroke

text: 78 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: Ischemic stroke

text: ND10084 male affected Ischemic stroke sample


text: Coriell

text: live

text: Generic

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: ND10085 female unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 75 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: History of arthritis and coronary artery disease;see GM05793 Lymphoid;clinically unaffected father of GM05798

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Wilson disease

text: GM05794 male unaffected Wilson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Als panel caucasian from the us

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Italian;Irish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10095 male affected Als panel caucasian from the us sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected spouse of ND10102

text: CHINESE

text: proband

text: Homo sapiens

text: Asian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND10098 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;see GM05796 Fibroblast

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Wilson disease

text: GM05795 female unaffected Wilson disease sample


text: Coriell

text: live

text: Generic

text: 75 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: CHINESE

text: spouse

text: Homo sapiens

text: Asian

text: Male

text: Control

text: Population/convenience control

text: ND10102 male unaffected Control sample


text: Coriell

text: live

text: Generic

text: 70 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of GM05798;see GM05795 Lymphoid

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Wilson disease

text: GM05796 female unaffected Wilson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: ND10115 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Wilson disease

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 25;neurological abnormalities;Kayser-Fleisher rings;low serum ceruloplasmin;incr urinary copper excretion;elev hepatic copper level;no clinical features of liver disease;on penicillamine;see GM05798 Fibroblast

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Wilson disease

text: GM05797 female affected Wilson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Als panel caucasian from the us

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND10119 is unaffected spouse

text: IRELAND

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10118 male affected Als panel caucasian from the us sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Wilson disease

text: 37 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 25;neurological abnormalities;Kayser-Fleisher rings;low serum ceruloplasmin;increased urinary copper excretion;elevated hepatic copper level;no clinical features of liver disease;on penicillamine;see GM05797 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Wilson disease

text: GM05798 female affected Wilson disease sample


text: Coriell

text: live

text: Generic

text: 3 WK

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Phenotypically normal;<1% ADA activity in RBC's;ADA activity LL is 868;partial deficiency in other tissues;possible variant subgroup;no thymic shadow by x-ray;50% of normal purine nucleoside phosphorylase activity;28% of normal ADA activity in lymphoid cell lines;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 226 in exon 4 of the ADA gene 226C>T resulting in a substitution of tryptophan for arginine at codon 76 Arg76Trp(R76W) and a second allele has a C>T transition at nucleotide 821 in exon 9 of the ADA gene 821C>T resulting in a substitution of leucine for proline at codon 274 Pro274Leu(P274L);mother is GM05817.

characteristic: family id

text: proband

text: ADA

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Severe combined immunodeficiency autosomal recessive

text: Adenosine deaminase

text: ADA

text: GM05816 female unaffected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: IRISH;LEBANESE;CANADIAN

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND10119 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;50% of adenosine deaminase activity in RBCs;50% of normal purine nucleoside phosphorylase activity;91% of normal ADA activity in lymphoblasts;donor subject has one allele which has a C>T transition at nucleotide 226 in exon 4 of the ADA gene 226C>T resulting in a substitution of tryptophan for arginine at codon 76 Arg76Trp(R76W);affected child is GM05816.

characteristic: description

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: mother

text: ADA

text: Homo sapiens

text: Black

text: Female

text: Adenosine deaminase

text: ADA

text: GM05817 female unaffected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 56 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: ND10127 is spousal control

text: proband

text: Homo sapiens

text: Caucasian

text: Male

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

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10123 male affected ALS1 sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 20 FW

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Partial trisomy 13;multiple external and internal malformations including brachycephaly;bilateral epicanthus;malformed ears;hexadactyly;vitium cordis;and cystic kidneys

text: 46;XY;der(18)(18pter->18q23::13q14.1->13qter)pat.arr 13q14.11q34(42564369-114126487)x3;18q23(74644584-76116029)x1;46;XY;der(18)(18pter>18q23::13q14.1>13qter)pat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM05832 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND10124 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: Amyotrophic lateral sclerosis 1

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND10128 is unaffected spouse

text: proband

text: Homo sapiens

text: African American

text: Male

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND10125 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Muscular dystrophy: duchenne type

text: 10 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected female;de novo X/autosome translocation;walked at 11 months;initial symptoms started about age 4 and included calf hypertrophy;stumbling;and falling;atrophy of quadriceps muscles;Gower's maneuver;moderate weakness of anterior tibials;quadriceps;biceps;triceps;and deltoid muscles (at age 6);muscle strength in upper extremities 3+ to 4 and 2- in lower extremities (at age 9);absent deep tendon reflexes;short stature;tight heelcords;waddling gait;mild lumbar lordosis;elevated CPK of 8;300;EMG showed polyphasic units of small amplitude and short duration;muscle biopsy showed variability in fiber diameter;with degenerating and regenerating fibers;basophilic sarcoplasm;centrally located nuclei;and increased connective tissue;normal X is late replicating;PCR analysis of dystrophin gene shows no deletion or duplication;clinically normal parents and 3 brothers.

characteristic: description

text: CHINESE/HAWAIIAN/CAUCASIAN

characteristic: ethnicity

text: 46;X;t(X;5)(Xqter>Xp21.2::5q35.3>5qter;5pter>5q35.3::Xp21.2>Xpter)

text: Homo sapiens

text: Other

text: Female

text: Muscular dystrophy: duchenne type

text: Translocated chromosome

text: DMD

text: GM05835 female affected Muscular dystrophy: duchenne type sample


text: Coriell

text: live

text: Generic

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: ND10124 is proband spouse

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND10126 female unaffected Population/convenience control sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal but dull;mild connective tissue dysplasia;40% of PBL and 0% to 4% of fibroblasts show 46;fra(X) (q27);X;1 affected son;carrier female of a fully-methylated full mutation in the FMR1 gene consisting of approximately 650 CGG repeats by Southern blot analysis;her other allele is 21 repeats based on PCR and capillary electrophoresis

characteristic: family id

text: mother

characteristic: gene

text: 46;X;fra(X)(q27) 4% of cells show fra(X) with FudR

characteristic: karyotype

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM05847 female unaffected Fmr1 gene 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: ND10123 is proband spouse

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND10127 female unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Fragile x mental retardation syndrome

text: 4 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Moderate mental retardation;large ears & long face with prognathic appearance;undefined connective tissue dysplasia;50% of lymphocytes and 12% of fibroblasts show 46;fra(X)(q27);Y with FudR

characteristic: description

text: proband

text: 46;fra(X)(q27);Y 12% of cells show fra(X) with FudR

text: Homo sapiens

text: Caucasian

text: Male

text: Fragile x mental retardation syndrome

text: GM05848 male affected Fragile x mental retardation syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: ND10125 is proband spouse

characteristic: family id

text: spouse

text: Homo sapiens

text: African American

text: Female

text: Control

text: Ndpt111 - neurologicaly normal african american conrol panel

text: Population/convenience control

text: Ndpt031- african american control panel

text: ND10128 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;gradual vision loss noted about age 25-26;longstanding history of night blindness;marked vitreous syneresis in both eyes;fine cellular dusting of the anterior vitreous;fundus exam showed slight waxy pallor of the disc and very slight vascular attenuation;areas of peripheral vaso-obliteration;presence of a few zones of bone corpuscular pigmentation;generalized abnormality of the pigment epithelium;evidence of posterior vitreous separation in both eyes;cystoid macular edema bilaterally;subject's mother is legally blind;sister suffers from night blindness;brother has visual problems;maternal grandmother and two maternal great uncles have poor vision;ERG exam showed subnormal photopic and scotopic amplitudes;see GM05853 fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa 1

text: GM05852 female affected Retinitis pigmentosa 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND10129 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Retinitis pigmentosa 1

text: 27 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;gradual vision loss noted about age 25-26;longstanding history of night blindness;marked vitreous syneresis in both eyes;fine cellular dusting of the anterior vitreous;fundus exam showed slight waxy pallor of the disc and very slight vascular attenuation;areas of peripheral vaso-obliteration;presence of a few zones of bone corpuscular pigmentation;generalized abnormality of the pigment epithelium;evidence of posterior vitreous separation in both eyes;cystoid macular edema bilaterally;subject's mother is legally blind;sister suffers from night blindness;brother has visual problems;matenal grandmother and two maternal great uncles have poor vision;ERG exam showed subnormal photopic and scotopic amplitudes;see GM05852 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Retinitis pigmentosa 1

text: GM05853 female affected Retinitis pigmentosa 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: SWEDISH

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND10139 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: One affected son;2 affected grandsons;1% of lymphocytes & 4% of lymphoblasts show 46;X;fra(X)(q27);affected grandson is GM05131 Fibroblast;carrier female by Southern analysis

text: grandmother

text: 46;X;fra(X)(q27) 4% of cells show fra(X)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Fragile x mental retardation syndrome

text: GM05854 female unaffected Fragile x mental retardation syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 61 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: NORWAY;GERMANY

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND10140 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Als panel caucasian from the us

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected spouse of ND10147

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10146 male affected Als panel caucasian from the us sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two affected sons;1 affected brother;mild speech difficulties;affected son is GM05131 Fibroblast;46;X;fra(X)(q27) in 6% of lymphoblasts;carrier female by Southern analysis

text: mother

text: 46;X;fra(X)(q27) 6% of cells show fra(X)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Fragile x mental retardation syndrome

text: GM05855 female unaffected Fragile x mental retardation syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Coma;seizures;fatty liver;low levels of carnitine in plasma & tissues;def medium-chain Acyl CoA dehyd act;sim aff sib;non-ketotic hypoglycemia;homozygous for 985A>G {Lys304Glu (K304E)} mutation of ACADM (MCAD)

text: proband

text: ACADM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ACADM

text: Acyl-coa dehydrogenase, medium-chain

text: GM05870 female affected ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 55 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: ND10146 is proband spouse

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND10147 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 1 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Coma;dicarboxylicaciduria;low plasma carnitine level;def medium-chain Acyl CoA dehydrogenase activity;non-ketotic hypoglycemia;homozygous for 985A>G {Lys304Glu (K304E)} mutation of ACADM (MCAD)

characteristic: description

text: ACADM

text: Homo sapiens

text: Caucasian

text: Female

text: ACADM

text: Acyl-coa dehydrogenase, medium-chain

text: GM05872 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 aneurysm - unruptured

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND10169 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 7 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Low set ears;hypertelorism with wide Mongolian slant;beaked nose;Pierre Robin anomalies;and hypoplastic nipples

text: 46;XX;del(16)(pter->p12::p11.2->qter).arr 16p12.1p11.2(27104393-31879009)x1;46;XX;del(16)(pter>p11.2::p11.1>qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Chromosome deletion

text: GM05875 female unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND10180 is unaffected spouse

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND10179 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Digeorge syndrome

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY in lymphocytes;clinically affected;heart abnormalities seen on autopsy include interrupted aortic arch (type B) with isolation of right subclavian artery;malalignment type ventricular septal defect with subaortic obstruction plus discrete fibrous subaortic stenosis;bicuspid aortic valve with rudimentary coronary commissure;thymic aplasia;lymphopenia;hypocalcemia with absent parathyroids;seizures;small ears;possible facial palsy.

text: 46;XY.ish del(22)(pter>q11.2::q11.2>qter)(D22S75-);46;XY.ish del(22)(q11.2q11.2)(D22S75-).arr 8p23.1(7316610-7825131)x1;22q11.21(17256415-18691905)x1

text: Homo sapiens

text: Caucasian

text: Male

text: DGS

text: Digeorge syndrome

text: GM05876 male affected Digeorge syndrome sample


text: Coriell

text: live

text: Generic

text: 48 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: ND10179 is proband spouse

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND10180 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Proband not in Repository;affected dau has unbalanced translocation;46;XY;t(10;22)(10pter>10q26.3::22q11.21> 22qter;22pter>22q11.21::10q26.3>10qter);balanced;clinically normal

text: Homo sapiens

text: Caucasian

text: Male

text: DGS

text: Translocated chromosome

text: Digeorge syndrome

text: GM05878 male unaffected Digeorge syndrome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (left upper arm);see GM05920A Lymphoid;46;XX;2% of cells show random chromosome loss

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM05879 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Asian

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: ND10193 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ndpt116 - als panel: caucasians from north america upper-limb onset

characteristic: tag

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

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10207 male affected ALS1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 24 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Short stature & abnormal dermatoglyphics;one child with severe congenital malformations (Potter phenotype);see GM05881 Lymphoid

text: IRAQI

characteristic: ethnicity

text: proband

text: 47;XX;+del(21)(pter>q21.1::q21.3>qter).ish del(21)(wcp21+;VIJ2yRM2029+);47;XX;+mar(21q-?)

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM05880 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 3 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND10219 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND10466 is unaffected spouse

characteristic: description

text: IRISH

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND10223 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Short stature and abnormal dermatoglyphics;one child with severe congenital malformations (Potters phenotype);see GM05880 Fibroblast

text: IRAQI

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Aneuploid chromosome number - trisomy

text: GM05881 female unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10225

text: GREEK ORTHODOX

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND10224 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 39 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type II bipolar illness;onset at age 13;indeterminate number of episodes of major depression;six episodes of hypomania;alcoholism;on Lithium;positive family history

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM05883 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND10224

text: GREEK ORTHODOX

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND10225 male unaffected Control sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Osteogenic sarcoma

text: 13 YR

text: Tumor-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Line 143B;human osteosarcoma cells transformed by murine sarcoma virus;deficient in thymidine kinase;tumorigenic in nude mice;passage 5 at CCR;modal no of 50 chromosomes;all cells XO;64% are polyploid

characteristic: description

text: Modal no. of 50 chromosomes;all cells XO;mean no. of chromosomes is 48;64% are polyploid;markers 1q-;9q-;12q+;17p+

text: Homo sapiens

text: Caucasian

text: Female

text: Osteogenic sarcoma

text: GM05887 female affected Osteogenic sarcoma sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Als panel caucasian from the us

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND10253 is spousal control

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10252 female affected Als panel caucasian from the us sample


text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Depressive personality;drug abuse;schizo-affective disorder (depressed type);acute manic disorder;alcoholism;positive family history

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: GM05900 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: ND10252 is affected spouse

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND10253 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;2 sibs with type I bipolar illness

text: brother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: Major affective disorder - 125480 or 309200

text: GM05909 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Als panel caucasian from the us

text: 61 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: ND10256 is spousal control

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10255 female affected Als panel caucasian from the us sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two sibs with type I bipolar illness;minor depression;drug abuse;sexual deviation;onset at age 14;see GM08272 Fibroblast

characteristic: description

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM05910 female affected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND10255 is proband spouse

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND10256 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type II bipolar illness with major depression;onset at age 10;1 episode of major depression;numerous hypomanic episodes;1 treated with Lithium;history of drug abuse & alcoholism

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: GM05911 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Als panel caucasian from the us

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10259

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10258 female affected Als panel caucasian from the us sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 20 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Balanced carrier;46;XX;inv ins(11) (pter>p14::p11.2>q22::p14>p11.2::q22> qter);a daughter had aniridia;multiple anomalies;failure to thrive;& severe psychomotor retardation;affected daughter is not in the Repository

text: parent

text: 46;XX;ins(11)(pter>p14::p11.2>q22:: p14>p11.2::q22>qter);46;XX;inv ins(11)(pter>p14::p11.2>q22:: p14>p11.2::q22>qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Wilms tumor 1

text: Inverted chromosome

text: GM05912 female unaffected Inverted chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 3 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Macular dysfunction;cleft lip & palate;& developmental delay;has triplication of 11p11.2>p14;157% of normal RBC catalase activity;46;XY;rec(11)(pter>q22:: p14>p11.2::q22>qter)mat;a sib had aniridia

text: sibling

text: 46;XY;rec(11)(pter->q22::p14->p11.1::q22->qter).arr 11p14.1p11.12(28915891-49798293)x3;46;XY;rec(11)(pter> q22::p14>p11.2::q22>qter)mat;46;XY;rec(11)(pter>q22::p14>p11.2::q22> qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Wilms tumor 1

text: Inverted chromosome

text: GM05913 male unaffected Inverted chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND10258

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND10259 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;12% of cells show random chromosome loss/gain;see GM05879C Fibroblast;tested negative for BRCA2 breast cancer mutation

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM05920 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

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

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

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10292 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 66 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: One major depressive episode with hospitalization;onset at age 61;also has diabetes mellitus since age 47

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM05921 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two episodes of major depression;onset at age 54

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM05922 female affected Major affective disorder - 125480 or 309200 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND10292

text: spouse

text: Homo sapiens

text: More than one race

text: Male

text: Control

text: Population/convenience control

text: ND10293 male unaffected Control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND10297

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel lower-limb onset

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

text: Amyotrophic lateral sclerosis 1

text: ND10296 male affected ALS1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 6;multiple major depressive episodes;anti-social personality;no medication

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM05923 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10296

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND10297 female unaffected Control panel for late onset parkinsons: unaffected individuals sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 children with type I bipolar illness;sister has type II bipolar illness;mother had unipolar illness;see GM08329 Fibroblast

text: mother

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: Major affective disorder - 125480 or 309200

text: GM05945 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND10302 is proband spouse

text: spouse

text: Homo sapiens

text: Asian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND10300 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Asian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND10302 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 62 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 children have type I bipolar illness;twin sister has unipolar illness;see GM08330 Fibroblast

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM05946 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Als panel caucasian from the us

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Homo sapiens

text: Caucasian

text: Male

text: Primary lateral sclerosis

text: Als panel caucasian from the us

text: Primary lateral scleroris: caucasian, non-hispanic

text: ND10311 male affected Als panel caucasian from the us sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND10319 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Minor depression;bulimia;generalized anxiety disorder;Cushing's disease;onset at age 23;2 episodes of minor depression;on Mitotane & Hydrochlorathiazide

characteristic: description

text: niece

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: GM05947 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND10320 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Bardet-biedl syndrome

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Retinal degeneration;extinguished electro-retinograms;polydactyly;partial syndactyly;obesity at 5.5 years;similarly affected brother;see GM05952 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: BBS

characteristic: tag

text: Bardet-biedl syndrome

text: GM05948 male affected Bardet-biedl syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND10321 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected spouse of ND10680

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND10326 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 50 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected sons;see GM05951 Lymphoid

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: BBS

text: Bardet-biedl syndrome

text: GM05949 female unaffected Bardet-biedl syndrome sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND10340 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Bardet-biedl syndrome

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Retinal degeneration;extinguished electro-retinogram;obesity;polydactyly;mental retardation;see GM05953A Lymph

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: BBS

text: Bardet-biedl syndrome

text: GM05950 male affected Bardet-biedl syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Als panel caucasian from the us

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND10380 is spousal control

text: IRISH

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10379 female affected Als panel caucasian from the us sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10379

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND10380 male unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected sons;see GM05949 Fibroblast

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: BBS

characteristic: tag

text: Bardet-biedl syndrome

text: GM05951 female unaffected Bardet-biedl syndrome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10382

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND10383 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Bardet-biedl syndrome

text: 18 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Retinal degeneration;extinguished electro-retinograms;polydactyly;partial syndactyly;obesity at 5.5 years;similarly affected brother;see GM05948 Fib

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: BBS

text: Bardet-biedl syndrome

text: GM05952 male affected Bardet-biedl syndrome sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: ND10399 is spousal control

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND10398 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND10399 male unaffected Control panel for young onset parkinsons: unaffected individuals sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Bardet-biedl syndrome

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Retinal degeneration;extinguished electro-retinogram;obesity;polydactyly;mental retardation;see GM05950 Fibro

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: BBS

text: Bardet-biedl syndrome

text: GM05953 male affected Bardet-biedl syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND10400 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: BBS

text: Bardet-biedl syndrome

text: GM05954 female unaffected Bardet-biedl syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: IRISH

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND10420 female unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 4 MO

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Opisthotonic posturing;congenital heart disease;bilateral retinal coloboma;bilateral inguinal hernia;large tongue;late onset neonatal jaundice;hypotonia;both parents have normal karyotypes;46;XY;14q+;unbalanced

text: 46;XY;14q+;46;XY;dup(14)(pter->q24::q22->qter).arr 14q22.2q24.3(54038516-75217413)x3;46;XY;dup(14)(pter>q24::q22>qter).ish dup(14)(wcp14+);rev ish enh14(q22q24)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Derivative chromosome

text: GM05966 male unaffected Copy number variation (cnv) reference panel sample


text: Coriell

text: live

text: Generic

text: Als panel caucasian from the us

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND10423

characteristic: description

text: ITALIAN

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10422 male affected Als panel caucasian from the us sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND10423 female unaffected Control panel for young onset parkinsons: unaffected individuals sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 32;1 episode of grief reaction-minor depression;received Valium

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM06021 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10420

text: IRISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Ndpt116 - als panel: caucasians from north america upper-limb onset

characteristic: tag

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

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10424 male affected ALS1 sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 46 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND10436 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Cyclothymic personality;grief reactionminor depression;onset at age 12

characteristic: description

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM06022 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND10439 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 61 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Cyclothymic personality;generalized anxiety disorder;onset at age 49

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM06031 male affected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10223

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND10466 female unaffected Control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Als panel caucasian from the us

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND10479 is spousal control

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10476 female affected Als panel caucasian from the us sample


text: Coriell

text: live

text: Generic

text: 26 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Depressive personality;anti-social personality;minor depression;drug abuse;alcoholism

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM06032 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: Als panel caucasian from the us

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: ND10480 is spousal control

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10477 male affected Als panel caucasian from the us sample


text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: ND10476 is proband spouse

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND10479 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 18 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: 46;XY;t(4;6)(4pter>4q21.1::6p25>6pter;6qter>6p25::4q21.1>4qter);del(18)(pter> q21.3:);46;XY;t(4;6)(4pter>4q21.1::6p25>6pter;6qter>6p25::4q21.1>4qter)mat;del(18)(pter>q21.3:).ish del(18)(VIJ22050-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: Chromosome deletion

text: GM06037 male unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND10480 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Drug abuse;1 episode of minor depression;onset at age 20

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM06039 male affected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

text: control family

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND10481 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Als panel caucasian from the us

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: ND10486 is spousal control

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10483 female affected Als panel caucasian from the us sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Miller-dieker lissencephaly syndrome

text: 4 MO

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Typical facies (bitemporal hollowing;thin downturned upper lip;micrognathia);umbilical hernia;sacral sinus tract;and cryptorchidism;46;XY;r(17) (::p13.3>q25.3::).ish r(17)(D17S379-;RARA+)

text: 46;XY;r(17)(::p13->q25::).ish r(17) (D17S379-;RARA+).arr 11q12.3(62084613-62374756)x3;17p13.3p13.2(513-5705181)x1;46;XY;r(17)(::p13.3>q25.3::).ish r(17) (D17S379-;RARA+)

text: Homo sapiens

text: Caucasian

text: Male

text: Ring chromosome

characteristic: tag

text: MDLS

text: Miller-dieker lissencephaly syndrome

text: GM06047 male affected Miller-dieker lissencephaly syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Als panel caucasian from the us

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND10487

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10485 female affected Als panel caucasian from the us sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;onset at age 24;3 major depressive episodes with hospitalization;2 manic episodes with hospitalization;on Mellaril

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM06048 female affected Major affective disorder - 125480 or 309200 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: ND10486 male unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND10487 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 23 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Minor depression;46;XX;16% of cells show random chromosome loss

text: daughter

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: GM06049 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: Progressive muscular atrophy

text: 69 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND10496

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive muscular atrophy

characteristic: tag

text: ND10490 male affected Progressive muscular atrophy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

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

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM06051 female unaffected Apparently healthy individuals with normal psychiatric evaluations sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Progressive muscular atrophy

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Progressive muscular atrophy

text: ND10494 male affected Progressive muscular atrophy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10490

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND10496 female unaffected Control panel for late onset parkinsons: unaffected individuals sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;no detectable AK activity in RBCs;20% of normal activity in fibroblasts;& 17% of normal activity in leukocytes;similarly affected sib;parents have 50-60% of normal AK activity in RBCs

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Adenylate kinase 1

text: GM06052 female unaffected Adenylate kinase 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10494

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND10499 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: 64 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Onset at age 41;2 episodes of minor depression

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM06054 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND10503 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;onset at age 20;chronically depressed;1 episode of mania with hospitalization;on Asendin;Norpramin;& Pamelor;has received Lithium

characteristic: description

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: GM06055 female affected Major affective disorder - 125480 or 309200 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: same subject as ND29369

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Other

characteristic: race

text: Female

text: Parkinson disease

text: ND10504 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Pyruvate carboxylase deficiency

text: 4 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: No detectable pyruvate carboxylase activity in fibroblasts;normal propionyl CoA carboxylase activity;severe lactic acidosis & failure to thrive

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Pyruvate carboxylase deficiency

text: GM06056 female affected Pyruvate carboxylase deficiency sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 2 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;microcephaly;small for age;low-set ears;bilateral epicanthal folds;decreased muscle tone;low total finger-ridge count;parents both have normal karyotypes

text: proband

text: 49;XXXXX;49;XXXXX.Xp22.33q28(108464-154887040)x4

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: GM06061 female unaffected Aneuploid chromosome number - non-trisomic sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND10505 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 1;short stature;multiple fractures;dull mentality;dental malocclusion;bilateral optic atrophy;high arched palate;& mild hirsutism;deficient RBC carbonic anhydrase II activity;see GM06071 Fibroblast

characteristic: description

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: GM06065 female affected Osteopetrosis with renal tubular acidosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND10506 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 32 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 3;mild anemia;multiple fractures;dull mentality;short stature;obese;decreased visual acuity;dental malocclusion;high arched palate;& mild genu valgum;2 affected sisters;def RBC carbonic anhydrase II activity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM06066 female affected Osteopetrosis with renal tubular acidosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND10507 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 54 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Three affected daughters and 1 unaffected daughter;asymptomatic;50% of normal RBC carbonic anhydrase II activity;slow growing culture;see GM06072 Fibroblast

text: ITALIAN

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM06067 female unaffected Osteopetrosis with renal tubular acidosis sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Population/convenience control

text: ND10525 male unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Three affected daughters & 1 unaffected daughter;asymptomatic;50% of normal RBC carbonic anhydrase II activity;see GM06073 Fibroblast

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM06068 male unaffected Osteopetrosis with renal tubular acidosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Primary lateral sclerosis

text: ND10528 female affected Primary lateral scleroris: caucasian, non-hispanic sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 1;short stature;multiple fractures;dull mentality;dental malocclusion;bilateral optic atrophy;high arched palate;& mild hirsutism;deficient RBC carbonic anhydrase II activity;see GM06065 Lymphoid

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM06071 female affected Osteopetrosis with renal tubular acidosis sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 54 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Three affected daughters & 1 unaffected daughter;asymptomatic;50% of normal RBC carbonic anhydrase II activity;slow growing culture;see GM06067 Lymphoid;proband is GM06066 Lymphoid

text: ITALIAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM06072 female unaffected Osteopetrosis with renal tubular acidosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Als panel caucasian from the us

text: 32 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND10540

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10536 female affected Als panel caucasian from the us sample


text: Coriell

text: live

text: Generic

text: 56 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Three affected daughters & 1 unaffected daughter;asymptomatic;50% of normal RBC carbonic anhydrase II activity;see GM06068 Lymphoid;proband is GM06066 Lymphoid

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM06073 male unaffected Osteopetrosis with renal tubular acidosis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10536

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Population/convenience control

text: ND10540 male unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotype suggestive of Marfan syndrome but no ocular or cardiac anomalies

characteristic: description

text: 46;XX;rec(9)(pter> q22.1::q34.3>q34.1::q22.1>qter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Duplicated chromosome

text: GM06074 female unaffected Duplicated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Bardet-biedl syndrome

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Retinal degeneration;medullary sponge kidney;& slight mental retardation;an affected sister is in addition obese & manifests polydactyly

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: BBS

text: Bardet-biedl syndrome

text: GM06080 female affected Bardet-biedl syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Als panel caucasian from the us

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10559

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10554 male affected Als panel caucasian from the us sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 46 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected daughters;see GM06082 Lymphoid;affected daughter is GM06080 Lymphoid

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: BBS

text: Bardet-biedl syndrome

text: GM06081 female unaffected Bardet-biedl syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 40 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND10560

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND10557 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND10557

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND10560 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected daughters;see GM06081 Fibroblast

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: BBS

characteristic: tag

text: Bardet-biedl syndrome

text: GM06082 female unaffected Bardet-biedl syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10562

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

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

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

text: Als panel caucasian from the us

text: Amyotrophic lateral sclerosis 1

text: ND10561 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;50% of normal RBC carbonic anhydrase II activity

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM06087 female unaffected Osteopetrosis with renal tubular acidosis sample


text: Coriell

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10561

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND10562 female unaffected Control sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: german;irish;scottish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND10575 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: POLH

text: 42 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Chinese;XP1SF;skin hyperpigmentation and solar cancers on face;one similarly affected sib;abnormal DNA replication after UV irradiation;donor subject is homozygous for a C>T transition at nucleotide 67 of the POLH gene (67C>T) resulting in the substitution of a premature termination codon for glutamic acid at codon 22 Glu22Ter (E22X)

text: CHINESE

text: POLH

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Asian

text: Female

text: Polymerase

text: Xeroderma pigmentosum, variant type

text: ETA

text: DNA

text: POLH

text: XPV

text: GM06090 female affected POLH sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: control family

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND10581 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal beta-galactosidase & neuraminidase activity;see GM04307 Fibroblast

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: GM06091 female affected Neuraminidase deficiency with beta-galactosidase deficiency sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12712

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND10588 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 75 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: ND10592 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal beta-galactosidase & neuraminidase activity;see GM04306 Fibroblast

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM06092 male unaffected Neuraminidase deficiency with beta-galactosidase deficiency sample


text: Coriell

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND10619

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND10593 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Zellweger syndrome

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Failure to thrive;abnormal facies;hypotonia;hepatomegaly;cirrhosis;small calcification at the patella;developmental delay;and mental retardation;absent hepatic peroxisomes;slow growing culture

text: Homo sapiens

text: Caucasian

text: Female

text: Zellweger syndrome

text: ZS

text: GM06094 female affected Zellweger syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10618

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND10594 male unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Miller-dieker lissencephaly syndrome

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Typical facies (bitemporal hollowing;thin downturned upper lip;micrognathia;microcephaly;high arched palate);ventricular septal defect

characteristic: description

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: MDLS

text: Miller-dieker lissencephaly syndrome

text: GM06097 female affected Miller-dieker lissencephaly syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10623

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

characteristic: tag

text: ND10595 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: TS

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;seizures;hypomelanotic macules on left cheek;facial angiofibromas;confetti like hypopigmented macules scattered over lower legs;shagreen patches on posterior right shoulder;mid-upper back;mid-lower back;and right posterior thigh;adenoma sebaceum;two small scalp papules;ungual fibromas on left thumb and index finger and right thumb;index finger and middle finger;decreased visual acuity in right eye;donor subject has a splice acceptor mutation in the TSC2 gene 2743-1G>A resulting in a skipped exon;polymorphisms in the TSC2 gene include 1100G>A;2546-12C>T;2639+44C>G;2580T>C;and 5202T>C;same donor as GM06100 fibroblast.

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Tuberous sclerosis

text: Tsc2 gene

text: TS

text: GM06099 female affected TS sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 58 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND10625

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND10596 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: TS

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;seizures;hypomelanotic macules on left cheek;facial angiofibromas;confetti like hypopigmented macules scattered over lower legs;shagreen patches on posterior right shoulder;mid-upper back;mid-lower back;and right posterior thigh;adenoma sebaceum;two small scalp papules;ungual fibromas on left thumb and index finger and right thumb;index finger and middle finger;decreased visual acuity in right eye;donor subject has a splice acceptor mutation in the TSC2 gene 2743-1G>A resulting in a skipped exon;polymorphisms in the TSC2 gene include 1100G>A;2546-12C>T;2639+44C>G;2580T>C;and 5202T>C;same donor as GM06099 lymphocyte.

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Tuberous sclerosis

text: Tsc2 gene

text: TS

text: GM06100 female affected TS sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 74 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10620

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND10600 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: TS

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 2;mental retardation with IQ of 66;adenoma sebaceum over the nose and cheeks in a butterfly distribution;seizures that began about 6 months of age;numerous;variable sized areas of depigmentation over the legs;arms and back;shagreen patch in midline of upper back;forehead plaque;abnormal EEG at age 7;which showed right fronto temporal and left occipital focal abnormalities;donor subject is heterozygous for a G>A transition at nucleotide 5228 in exon 40 of the TSC2 gene resulting in a substitution of glutamine for arginine at codon 1743 Arg1743Gln (R1743Q);same donor as GM06102 fibroblast.

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Tuberous sclerosis

text: Tsc2 gene

text: TS

text: GM06101 female affected TS sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: TS

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 2;mental retardation with IQ of 66;adenoma sebaceum over the nose and cheeks in a butterfly distribution;seizures that began about 6 months of age;numerous;variable sized areas of depigmentation over the legs;arms and back;shagreen patch in midline of upper back;forehead plaque;abnormal EEG at age 7;which showed right fronto temporal and left occipital focal abnormalities;donor subject is heterozygous for a G>A transition at nucleotide 5228 in exon 40 of the TSC2 gene resulting in a substitution of glutamine for arginine at codon 1743 Arg1743Gln (R1743Q);same donor as GM06101 lymphocyte.

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tuberous sclerosis

text: Tsc2 gene

text: TS

text: GM06102 female affected TS sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND10621

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND10602 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Schizo-affective disorder (depressed type);manic disorder;alcoholism;1 episode of depression treated with ECT & chemotherapy;1 episode of mania;onset at age 52

characteristic: description

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM06107 male affected Major affective disorder - 125480 or 309200 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 58 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND10622

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

characteristic: tag

text: ND10606 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Mucopolysaccharidosis type iiia

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;no language;spastic gait;coarse facies;typical roentgen bone findings;deficient heparan-N-sulfatase;donor subject is a compound heterozygote: one allele carries a G>A transition at nucleotide 746 (746G>A) in the SGSH gene Arg 245His (R245H);no changes detected in other allele

text: SGSH

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Mucopolysaccharidosis type iiia

text: N-sulfoglucosamine sulfohydrolase

text: SGSH

text: GM06110 female affected Mucopolysaccharidosis type iiia 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: Unaffected spouse of ND10627

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND10611 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 16 FW

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Skin biopsy;same patient as GM06112;46;XX;6% of cells show random chromosome loss

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Apparently healthy fetal tissue

text: GM06111 female unaffected Apparently healthy fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND10592

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND10617 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 16 FW

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lung biopsy;same patient as GM06111;46;XX;4% of cells show random chromosome loss

text: proband

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Apparently healthy fetal tissue

characteristic: tag

text: GM06112 female unaffected Apparently healthy fetal tissue sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND10618 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 20 FW

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;same patient as GM06114;46;XY;10% of cells show random chromosome loss

text: proband

text: Homo sapiens

text: Black

text: Male

text: Apparently healthy fetal tissue

text: GM06113 male unaffected Apparently healthy fetal tissue sample

characteristic: title