characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Schizophrenia

text: 27 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01490 Lymphoid;anorexia nervosa since adolescence;more schizoid than depressed

text: JEWISH

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Schizophrenia

text: SCZD

text: GM02503 female affected Schizophrenia sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

tag: attribute

text: 43 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: Subarachnoid hemorrhage, caucasian from north america

text: ND05902 female affected Subarachnoid hemorrhage sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Aneuploid chromosome number - trisomy

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Formerly GM00258;shows increased sensitivity to interferon;Down syndrome phenotype;hyper-responsive to B-adrenergic stimulation

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Trisomy 21

text: Aneuploid chromosome number - trisomy

text: GM02504 male affected Aneuploid chromosome number - trisomy sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 26 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

text: Asian

text: Female

text: ND05903 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B.S. Registry #20;sun sensitivity;increased sister chromatid exchange in fibroblasts;donor subject is a compound heterozygote: one allele has a deletion at nucleotide 2923 of the RECQL3 gene 2923delC resulting in a frameshift fs:974+23-X and a second allele has a deletion of exon 15 resulting in a frameshift fs:941+26-X .

characteristic: gene

characteristic: mutation

text: DEL EX15

text: Homo sapiens

text: Caucasian

text: Female

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM02520 female affected RECQL3 sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 47 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

text: ND05916 male affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Patient has high levels of gonadotrophins: FSH;LH;and testosterone;tall;thin;aggressive behavior;unusual appearance

characteristic: description

text: 47;XXY 42 /48;XXYY 6 /48;XXY;+8 2;47;XXY 45 /48;XXYY 3 /47;XYY 1 /46;XY 1;48;XXYY

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM02521 male unaffected Aneuploid chromosome number - non-trisomic sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 62 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND05918 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Protease inhibitor 1

text: 3 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Abdominal skin biopsy;serum Pi type is ZZ;both parents are MZ;genotype of fibroblast DNA confirmed by allele specific amplification (distinguished Glu342 from Lys342 as ZZ)

text: Homo sapiens

text: Caucasian

text: Male

text: PI

text: Protease inhibitor 1

text: GM02522 male affected Protease inhibitor 1 sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND05919 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Glycogen storage disease iii

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Debrancher enzyme deficiency in muscle and low phosphorylase activity in liver;fibroblasts fail to form more glucose from the phosphorylase limit dextrin than from glycogen

characteristic: description

text: Homo sapiens

text: Black

text: Male

text: Glycogen storage disease iii

text: GM02523 male affected Glycogen storage disease iii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND05926;unaffected father is ND05927

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND05925 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 10 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 82% of cells are 47;XY;+21 at passage 10;small head;high arched palate;flat occiput;upslanting palpebral fissures;bilateral epicanthal folds;hypotonic fingers;and developmental delay

text: proband

text: 47;XY;+21 41 /46;XY;dic(21;21)(pter> q21::p12>qter) 9

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Aneuploid chromosome number - trisomy

text: GM02524 male unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 37 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND05925;spouse of ND05927

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND05926 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Mucolipidosis iv

text: 2 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Ashkenazi

text: ASHKENAZI

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Mucolipidosis iv

text: GM02525 female affected Mucolipidosis iv sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND05925;spouse of ND05926

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND05927 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Mucolipidosis iv

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;clinically affected

characteristic: description

text: ASHKENAZI

text: Homo sapiens

text: Caucasian

text: Female

text: Mucolipidosis iv

characteristic: tag

text: GM02526 female affected Mucolipidosis iv sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND05931 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Mucolipidosis iv

text: 2 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;approx 25% of control neuraminidase activity employing GD1a and GD1b gangliosides

text: ASHKENAZI

text: Homo sapiens

text: Caucasian

text: Male

text: Mucolipidosis iv

text: GM02527 male affected Mucolipidosis iv sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND05935 male affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Mucolipin 1

text: 8 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;fibroblasts show grossly abnormal storage bodies and normal levels of acid hydrolases;donor subject is homozygous for an A>G transition in the acceptor splice site of the third intron of the MCOLN1 gene IVS3-2A>G resulting in the skipping of exon 4;donor subject is also heterozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene 1226A>G resulting in a substitution of serine for asparagine at codon 370 Asn370Ser (N370S) .

text: ASHKENAZI

characteristic: ethnicity

characteristic: gene

characteristic: mutation

text: A>G

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Mucolipidosis iv

text: GBA

text: Glucosidase acid beta

text: Mucolipin 1

text: GM02528 male affected Mucolipin 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND05949.

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: PD

characteristic: tag

text: Parkinson disease

text: ND05948 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Mucolipidosis iv

text: 19 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;abnormal cytoplasmic lysosomal storage bodies;affected sib is GM02048 Fibroblast and GM02533A Lymphoid;46;XX;8% of cells show random chromosome loss

text: ASHKENAZI

text: sister

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Mucolipidosis iv

text: GM02529 female affected Mucolipidosis iv sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 61 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND05951.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND05950 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Iranian;AT21IJE-F;see GM02783B Lymphoid;decreased post-neocarzinostatin exposure colony-forming ability

characteristic: description

text: IRANIAN

characteristic: ethnicity

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM02530 male affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse ofND05950.

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: ND05951 female unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Ataxia-telangiectasia

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Iranian;see GM02782B Lymphoid;similarly affected sib;AT20IJE-F;decreased post-neocarzinostatin exposure colony forming ability

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM02531 male affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: American Indian

text: Male

text: Parkinson disease

text: ND05958 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Mucolipidosis iv

text: 2 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;see GM02048 Fibroblast;affected sib is GM02529 Amniotic;photophobia;bilateral corneal opacities;abnormal lysosomal storage bodies;donor subject is a compound heterozygote: one allele has an A>G transition in the acceptor splice site of the third intron of the MCOLN1 gene (IVS3AS-2A>G) resulting in the skipping of exon 4;the second allele has a 6;450 bp deletion spanning a region from 928 bp upstream from the first exon to bp 31 of exon 7 (del ex1-ex7)

text: ASHKENAZI

text: proband

characteristic: gene

characteristic: mutation

text: 450-BP DEL

text: A>G

text: Homo sapiens

text: Caucasian

text: Female

text: Mucolipidosis iv

text: Mucolipin 1

text: GM02533 female affected Mucolipidosis iv sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: WELSH

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND05965 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hawaiian;clinically affected

characteristic: description

text: proband

text: Homo sapiens

text: Asian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: GM02545 male affected Xeroderma pigmentosum: complementation group undetermined sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND05966 female unaffected Control sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 6 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B.S. Registry #71;increased sister chromatid exchange;increased post UV irradiation unscheduled DNA synthesis;donor subject is a compound heterozygote: one allele has a 1-bp insertion at nucleotide 1544 of the RECQL3 gene 1544insA resulting in a frameshift and premature termination fs:514+1-X and a second allele has a C>T transition at nucleotide 2328 of the RECQL3 gene 2328C>T resulting in a substitution of a termination codon for glutamine at codon 752 Gln752Ter (Q752X) .

text: proband

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM02548 male affected RECQL3 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 2 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND05970 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Dystonia musculorum deformans 2

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Eastern European Jewish;onset at age 15

characteristic: description

text: JEWISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: Dystonia musculorum deformans 2

text: GM02551 female affected Dystonia musculorum deformans 2 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 56 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND05977

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND05976 female affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Mucopolysaccharidosis type iiib

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient N-acetyl-alpha-glucosaminidase;increased urinary heparan sulfate;compound heterozygote;one allele carries a C>T transition in nucleotide 889 (889C>T) in the NAGLU gene;resulting in a stop codon at codon 297 Arg297ter(R297X);the second allele has a mutation resulting in a substitution of histidine for arginine at codon 643 Arg643His(R643H)

text: NAGLU

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: NAGLU

text: Mucopolysaccharidosis type iiib

text: N-acetylglucosaminidase, alpha-

text: GM02552 female affected Mucopolysaccharidosis type iiib sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND05976

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND05977 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Two affected children;clinically unaffected mother of GM01602 & 02455

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Mucopolysaccharidosis type ivb

characteristic: tag

text: GM02555 female unaffected Mucopolysaccharidosis type ivb sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: PD

text: 69 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND05995

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND05994 female affected PD sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Diabetes mellitus

text: 27 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Onset at age 26;obese;not on Insulin;mother is also diabetic

text: PIMA

characteristic: ethnicity

text: proband

text: Homo sapiens

text: American Indian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02556 female affected Diabetes mellitus sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND05994

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND05995 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: Diabetes mellitus

text: 29 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Both parents and 3 grandparents are diabetic;onset at age 28

text: PIMA

text: Homo sapiens

characteristic: organism

text: American Indian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02557 female affected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND05998

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND05997 female unaffected Control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Mucolipidosis iiia

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 40% of normal beta-galactosidase and 15% of normal beta-hexosaminidase activity;deficient leukocyte N-acetylglucosaminylphosphotransferase and increased serum B-hexosaminidase;GlcNAc-Phosphotransferase activity = 3% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 996 in exon 8 of the GNPTAB gene 996C>T resulting in a substitution of a stop codon for glutamine at codon 278 Gln278Ter (Q278X) and a second allele has a donor splice site mutation in intron 17 of the GNPTAB gene IVS17+6T>G resulting in the skipping of exon 17 and a frameshift with a premature termination at residue 1085 P1084fsX1085 .

text: sister

text: GNPTAB

characteristic: gene

characteristic: mutation

text: T>G

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: GNPTAB

characteristic: tag

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

text: Mucolipidosis iiia

text: GM02558 female affected Mucolipidosis iiia sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 68 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND05997

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND05998 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Mucolipidosis iiia

text: 7 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Similarly affected sib;deficient fibroblast B-hexosaminidase;B-galactosidase;A-fucosidase;A-galactosidase;A-mannosidase;and N-acetylglucosaminylphosphotransferase activity;complementation group A;GlcNAc-Phosphotransferase activity = 3% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 996 in exon 8 of the GNPTAB gene 996C>T resulting in a substitution of a stop codon for glutamine at codon 278 Gln278Ter (Q278X) and a second allele has a donor splice site mutation in intron 17 of the GNPTAB gene IVS17+6T>G resulting in the skipping of exon 17 and a frameshift with a premature termination at residue 1085 P1084fsX1085 .

text: proband

text: GNPTAB

text: T>G

text: Homo sapiens

text: Black

text: Female

text: GNPTAB

text: Mucolipidosis iiia

text: GM02559 female affected Mucolipidosis iiia sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial rupture-status undefined

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: niece

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial rupture-status undefined

text: ND05999 female affected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Diabetes mellitus

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Onset at age 27 yrs;not on Insulin;see GM02566B Lymphoid

characteristic: description

text: PIMA

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: American Indian

characteristic: race

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02565 male affected Diabetes mellitus sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: ND06006 male affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Diabetes mellitus

text: 28 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 27 yrs;not on Insulin;see GM02565 Fibroblast

text: PIMA

text: proband

text: Homo sapiens

text: American Indian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02566 male affected Diabetes mellitus sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 67 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND06009

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND06008 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Aneuploid chromosome number - trisomy

text: 3 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Down syndrome phenotype;10 times more sensitive to A and B interferon (VSV virus) than normal diploid fibroblasts;equal sensitivity with EMC virus

text: 48;XX;+21;+mar;48;XX;+21;+mar.arr 16q13(56414959-56692446)x3;21p11.2q22.3(9758729-46921373)x3

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Trisomy 21

text: Aneuploid chromosome number - trisomy

text: GM02571 female affected Aneuploid chromosome number - trisomy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: PD

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND06008

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND06009 female affected PD sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type vi

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Arylsulfatase B

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Mucopolysaccharidosis type vi

text: GM02572 male affected Mucopolysaccharidosis type vi sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND06011

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND06010 female unaffected Control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 17 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal fibroblast alkaline phosphatase activity;clinically affected

text: Homo sapiens

text: Caucasian

text: Male

text: Non-lethal

text: GM02573 male affected Osteogenesis imperfecta: genetics uncertain sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND06026

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND06025 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Diabetes mellitus

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pima/Papago American Indian;onset at age 18;on Insulin;see GM02575 Lymphoid

text: PIMA/PAPAGO

characteristic: ethnicity

text: proband

text: Homo sapiens

text: American Indian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02574 male affected Diabetes mellitus sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND06025

characteristic: description

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND06026 female unaffected Control panel for late onset parkinsons: unaffected individuals sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Diabetes mellitus

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Pima-Papago American Indian;onset at age 18;on Insulin;see GM02574 Fibro

text: PIMA/PAPAGO

characteristic: family id

text: proband

text: Homo sapiens

text: American Indian

characteristic: race

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02575 male affected Diabetes mellitus sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial rupture-status undefined

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Intracranial rupture-status undefined

text: ND06041 male affected Intracranial rupture-status undefined sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 5 MO

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;approximately 1% of normal ADA activity in RBCs and lymphocytes;decreased ADA activity in fibroblasts;status post bone marrow transplant;parents are GM02580 and GM02582.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency

text: GM02578 male affected Severe combined immunodeficiency autosomal recessive sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 53 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND06044 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 38 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;half of normal levels of ADA activity;father of GM02578;same donor as GM02581 lymphocyte.

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM02580 male unaffected Severe combined immunodeficiency autosomal recessive sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND06046 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;half of normal levels of ADA activity;father of GM02578;same donor as GM02580 fibroblast.

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM02581 male unaffected Severe combined immunodeficiency autosomal recessive sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND06048

text: proband

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

text: ND06047 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 37 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;half of normal levels of ADA activity;enzyme phenotypes: Peptidases A;C;and D=1;Acid A-glucosidase=1;Neutral A-glucosidase C=1;mother of GM02578;same donor as GM02583 lymphocyte.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM02582 female unaffected Severe combined immunodeficiency autosomal recessive sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND06047

text: mother

text: Homo sapiens

text: African American

text: Female

text: ND06048 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;half of normal levels of ADA activity;enzyme phenotypes: Peptidases A;C;and D=1;Acid A-glucosidase=1;Neutral A-glucosidase C=1;mother of GM02578;same donor as GM02582 fibroblast.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM02583 female unaffected Severe combined immunodeficiency autosomal recessive sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father is ND06050;unaffected mother is ND06051.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND06049 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Leukemia

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;10% of cells show random chromosome loss/gain and 4% show random chromosomal aberrations;culture is negative for t cell 65;000 MW glycoprotein and positive for sIg and Ia (B cell) antigen

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Leukemia

text: Sub-acute

text: GM02584 male affected Leukemia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND06049;spouse is ND06051.

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND06050 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 17 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: 47;XYY;47;XYY.arr Yp11.31q12(2710425-27209311)x2;17q11.2q12(24467822-33220158)x1;17q21.31q21.32(41750174-42107467)x4

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: GM02587 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND06094;unaffected spouse is ND06050

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND06051 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 30 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;wife (46;XX) has history of several spontaneous abortions

text: 46;XY;t(6;9)(6pter>6q13::9p22>9pter;9qter>9p22::6q13>6qter)

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM02594 male unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND06053

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: Epilepsy, focal: caucasian

text: ND06052 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 33 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Turner syndrome

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Iso x chromosome

text: Turner syndrome

text: GM02595 female unaffected Iso x chromosome sample


text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND6052

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND06053 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 10 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 58% trisomy 8;mental retardation and failure to thrive

text: 47;XX;+8 29 /46;XX 21

text: Homo sapiens

text: Black

text: Female

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 8

text: GM02596 female unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND06055;unaffected father is ND06056.

characteristic: family id

text: proband

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

text: ND06054 male affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 18 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Gonadoblastoma;streak gonad;amenorrhea;skin fibroblast culture

text: 46;X;del(Y)(pter->q11.21:);der(17)t(Y;17)(Ypter->Yq11.21::17p13->17qter) 20 /45;X;der(Y;17)(Ypter->Yq11.21::17p13->17qter) 5 .ish del(Y)(SRY+;DYZ3+;DYZ1-;D17S2199-;D17S2200-);der(17)t(Y;17)(DYZ1+;DYZ3-;SRY-;D17S2199+;D17S2200+).arr Yp11.2q11.221(10135901-16311264)x0 1;8p23.1(7322406-7814569)x3;46;X;t(Y;17)(Ypter>Yq11::17p13>17pter;17qter>17p13::Yq11>Yqter)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

text: GM02598 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 33 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected son is ND06054;unaffected spouse is ND06056.

text: mother

text: Homo sapiens

text: African American

text: Female

characteristic: tag

text: ND06055 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Xy female - 306100 or 233420

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;H-Y antigen positive;positive for TDF gene sequences (ZFY)

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Xy female - 306100 or 233420

text: GM02600 female affected Xy female - 306100 or 233420 sample


text: Coriell

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected son is ND06054;unaffected spouse is ND06055.

text: father

text: Homo sapiens

characteristic: organism

text: African American

characteristic: race

text: Male

text: ND06056 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 8 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deficient ADA activity in RBC's;lymphoid line;and fibroblasts;enzyme phenotypes: 6PGD=A;Pepitdases A;C;and D= 1;Acid A-glucosidase=1;Neutral A-glucosidase C=1;< 1% of normal ADA activity and CRM protein in lymph culture;normal ADA mRNA;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 396 in exon 4 of the ADA gene 396C>T resulting in a substitution of tryptophan for arginine at codon 101 Arg101Trp(R101W) and a second allele has a G>A transition at nucleotide 727 in exon 7 of the ADA gene 727G>A (alternately described as 632G>A) resulting in a substitution of histidine for arginine at codon 211 Arg211His(R211H);parents are GM02607 and GM02609;same donor as GM02606 lymphocyte.

text: proband

text: ADA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Severe combined immunodeficiency autosomal recessive

text: Adenosine deaminase

text: ADA

text: GM02605 male affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Multiple system atrophy

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06077

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple system atrophy

text: ND06076 male affected Multiple system atrophy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 8 MO

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deficient ADA activity in RBC's;lymphoid line;and fibroblasts;enzyme phenotypes: 6PGD=A;Pepitdases A;C;and D= 1;Acid A-glucosidase=1;Neutral A-glucosidase C=1;< 1% of normal ADA activity and CRM protein in lymph culture;normal ADA mRNA;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 396 in exon 4 of the ADA gene 396C>T resulting in a substitution of tryptophan for arginine at codon 101 Arg101Trp(R101W) and a second allele has a G>A transition at nucleotide 727 in exon 7 of the ADA gene 727G>A (alternately described as 632G>A) resulting in a substitution of histidine for arginine at codon 211 Arg211His(R211H);parents are GM02608 and GM02610;same donor as GM02605 fibroblast.

characteristic: family id

text: proband

text: ADA

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Adenosine deaminase

text: ADA

text: GM02606 male affected 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 model

text: 69 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND06076

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND06077 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;carrier level of ADA activity in fibroblasts and lymphoblast culture;produces normal ADA mRNA;affected child is GM02605;same donor as GM02608 lymphocyte.

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency

text: GM02607 female unaffected Severe combined immunodeficiency autosomal recessive sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: PD

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND06085 male affected PD sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;carrier level of ADA activity in fibroblasts and lymphoblast culture;produces normal ADA mRNA;affected child is GM02606;same donor as GM02607 fibroblast.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM02608 female unaffected Severe combined immunodeficiency autosomal recessive sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 18 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND06088

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND06087 male affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;carrier level of ADA activity in fibroblasts and lymphoblast culture;produces normal ADA mRNA;affected child is GM02605;same donor as GM02610 lymphocyte

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM02609 male unaffected Severe combined immunodeficiency autosomal recessive sample


text: Coriell

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND06087

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND06088 female unaffected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;carrier level of ADA activity in fibroblasts and lymphoblast culture;produces normal ADA mRNA;affected child is GM02606;same donor as GM02609 fibroblast.

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM02610 male unaffected Severe combined immunodeficiency autosomal recessive sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 66 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND06100 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Diabetes mellitus

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Onset at age 6;similarly affected sib;see GM02677 Lymphoid

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02613 female affected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: aunt

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND06103 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Diabetes mellitus

text: 27 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Onset at age 18 months;on Insulin;see GM02678 Lymphoid

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02614 male affected Diabetes mellitus sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: uncle

text: Homo sapiens

text: Caucasian

text: Male

text: ND06104 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 29 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;2 affected sibs;see GM02679 Lymphoid

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02615 male unaffected Diabetes mellitus sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial rupture-status undefined

text: 70 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial rupture-status undefined

text: ND06135 female affected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

text: 63 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;see GM02680 Lymphoid;2 affected children

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02616 male unaffected Diabetes mellitus sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND06136 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 60 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;see GM02785A Lymphoid;2 affected children

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

characteristic: tag

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02617 female unaffected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND06154 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Gonadal dysgenesis;positive for H-Y antigen;in blood leukocytes and fibroblasts the normal X chromosome was late replicating;elevated gonadotropins;bicornuate uterus;axillary and pubic hair;renal abnormalities

characteristic: description

text: 46;X;t(X;12)(Xpter->Xq22::12q24->12qter;12pter->12q24::Xq22->Xqter).arr(1-22;X)x2;46;X;t(X;12)(Xpter>Xq22::12q24>12qter;12pter>12q24::Xq22>Xqter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM02621 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: aunt

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND06157 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 61 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;clinically normal mother of a 46;XX;phenotypic male

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM02623 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND06159 male affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Transient gynecomastia at age 20;in leukocytes;2 cells out of 50 showed 46;XY;inv(7)(p15q36);remainder were 46;XY

characteristic: family id

text: father

text: 46;XY;inv(7)(pter>p13::q34>p13::q34>qter) 48 /46;XY 2 .ish X(DXZ1+);Y(SRY+)

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Xx male syndrome

text: Inverted chromosome

text: GM02624 male unaffected Inverted chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 63 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND06160 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX in leukocytes;clinically normal

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: Xx male syndrome

text: GM02625 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND06161 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Derivative chromosome

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;bilateral mild gynecomastia;average IQ;phenotypically male;DNA from fibroblasts hybridizes Y-chromosome-specific DNA probes mapping near to the putative testis determining locus

text: second cousin

text: 46;XX;46;XX.ish der(X)t(X;Y)(p22.3;p11.3)(SRY+;DXZ1+).arr Yp11.31p11.2(2710425-5680476)x1;46;XX.ish der(X)t(X;Y)(Xqter>Xp22.3::Yp11.3>Ypter)(SRY+;DXZ1+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Derivative chromosome

text: Translocated chromosome

text: Xx male syndrome

text: GM02626 male affected Derivative chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND06163 male affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Gaucher disease type ii

text: 3 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Atypical;subacute neuropathic Gaucher;myoclonus;seizures;expired at age 3 due to pneumonia;24% of control fibroblast glucocerebrosidase activity;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1090 in exon 8 of the GBA gene (1090G>A) resulting in a substitution of arginine for glycine at codon 325 Gly325Arg(G325R);the second allele has a T>G transition at nucleotide 1141 in exon 8 (1141T>G) resulting in the substitution of glycine for cysteine at codon 342 Cys342Gly(C342G) codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

text: GBA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: GBA

text: Glucosidase acid beta

text: Gaucher disease type ii

text: GM02627 female affected Gaucher disease type ii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 51 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND06166

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Young onset parkinsons dna panel: affected individuals

characteristic: tag

text: PD

text: Parkinson disease

text: ND06165 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Mucolipidosis iv

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 19% of control neuraminidase activity employing GD1b ganglioside

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Mucolipidosis iv

text: GM02629 male affected Mucolipidosis iv sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND06165

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND06166 female unaffected Control panel for young onset parkinsons: unaffected individuals sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Carnosinemia

text: 12 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;14% of normal plasma Carnosinase activity;profound mental retardation;severe athetoid spastic quadriparesis;optic atrophy;sensory peripheral neuropathy

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Carnosinemia

text: GM02631 male affected Carnosinemia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected father is ND06169;unaffected mother is ND06168.

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND06167 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Many affected members in pedigree;46;XX;10% of cells show random chromosome loss;18% of cells show chromosome breaks;centromeres are fragile on chromosomes #1;#9;and #16;donor subject has a C>T change at nucleotide 643 in exon 5 of the APC gene (643C>T) resulting in the conversion of a glutamine at codon 215 to a stop codon Gln215Ter (Q215X)

text: ENGLISH

characteristic: ethnicity

characteristic: family id

text: proband

text: APC

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Turcot syndrome

characteristic: tag

text: APC

text: Adenomatous polyposis of the colon

text: GM02633 female affected Adenomatous polyposis of the colon sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND06167;unaffected spouse is ND06169.

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND06168 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 16 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: De Sanctis-Cacchione;lupus erythematosus;XP1MI;low level of UV induced unscheduled DNA synthesis in fibroblasts;see GM02096 (fibroblast);XP-associated neurologic abnormalities;a rarity in group C;the donor subject carries a point mutation that converts the proline at position 218 to histidine Pro218His (P218H) . The cell line is either homozygous or hemizygous for this mutation.

text: proband

text: XPC

text: Homo sapiens

text: Black

text: Female

text: XPC

text: GM02634 female affected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected father of ND06167;unaffected spouse is ND06168.

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND06169 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Diabetes mellitus

text: 33 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Onset at age 10;on Insulin;HLA type A1;A2/B8;Bw15;passage 2 at CCR

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Diabetes mellitus

characteristic: tag

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02635 female affected Diabetes mellitus sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND06209 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Diabetes mellitus

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Onset at age 2;on Insulin;similarly affected sib;see GM02676A Lymphoid

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02637 male affected Diabetes mellitus sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND06212

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND06211 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Diabetes mellitus

text: 10 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Onset at age 3;on Insulin;see GM02793C Lymphoid

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02638 female affected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND06211

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND06212 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 19 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Non-diabetic;2 affected sibs;see GM02675A Lymphoid

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02639 male unaffected Diabetes mellitus sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND06220 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 41 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;see GM02741B Lymphoid;both parents had maturity onset diabetes;2 affected children

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Diabetes mellitus

characteristic: tag

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02640 male unaffected Diabetes mellitus sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06244

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND06243 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 41 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;2 affected children;see GM03355 Lymphoid

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02641 female unaffected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND06243

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND06244 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected

text: FRENCH

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Multiple sulfatase deficiency

text: GM02644 female unaffected Multiple sulfatase deficiency sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 35 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06247

text: proband

text: Homo sapiens

text: Caucasian

text: Male

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

text: PD

text: Parkinson disease

text: ND06246 male affected Young onset parkinsons panel: affected individuals sample


text: Coriell

text: live

text: Generic

text: 17 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Positive family history;normal fibroblast alkaline phosphatase activity;clinically affected

text: Homo sapiens

text: Caucasian

text: Male

text: Non-lethal

text: GM02645 male affected Osteogenesis imperfecta: genetics uncertain sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND06246

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND06247 female 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: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Same patient as GM02699

text: proband

text: 46;XX;t(2;6)(2pter>2q11::6q15>6qter;6pter>6q15::2q11>2qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM02658 female unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: same subject as ND30171

characteristic: description

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND06284 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Phenylketonuria

text: 14 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Puerto Rican;clinically affected;profound mental retardation;spastic quadriparesis;donor subject is homozygous for a C>T transition at nucleotide 526 in exon 6 of the PAH gene 526C>T resulting in a substitution of a termination signal for arginine at codon 176 Arg176Ter (R176X) .

text: PUERTO RICAN

characteristic: ethnicity

text: PAH

text: Homo sapiens

text: Caucasian

text: Female

text: Phenylketonuria

text: GM02659 female affected Phenylketonuria sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 61 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND06288 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 21 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: 47;XX;+mar;unbalanced;marker is de novo and satellited

characteristic: description

text: 47;XX;+idic(15)(pter>p13::p13>pter) .ish idic(15)(D15Z1++;SNRPN++;PML-);47;XX;+mar

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Marker chromosome

characteristic: tag

text: GM02662 female unaffected Marker chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: first cousin once removed

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND06289 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Gilles de la tourette syndrome

text: 11 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Positive family history;abnormal body movements since age 3;formerly GM02643

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GTS

text: Gilles de la tourette syndrome

text: GM02664 male affected Gilles de la tourette syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 43 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND06290 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Skin biopsy;slow growing culture;46;XX;26% of cells show random chromosome loss;4% show random gain of one chromosome;15% are polyploid;12% show random chromosome abnormalities

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM02665 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: PD

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06294

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND06293 male affected PD sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 27 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Multiple sulfatase deficiency

characteristic: tag

text: GM02667 male unaffected Multiple sulfatase deficiency sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND06293

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND06294 female unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 41 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Male pseudohermaphrodite;several of Turner syndrome stigmata;mixed gonadal dysgenesis;33% of cells are 45;X

text: 46;X;del(Y)(pter>q11.2:) 77 /45;X 33

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Chromosome deletion

text: Turner syndrome

text: GM02668 unknown unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06302

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND06301 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal

text: 46;XY;t(6;8)(6pter>6q27::8q21>8qter;8pter>8q21::6q27>6qter);46;XY;t(6;8)(6pter>6q27::8q21>8qter;8pter>8q21::6q27>6qter).ish t(6;8)(D6S2522-;D8S1925+;D6S2522+;D8S1925-)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM02669 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND06301

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND06302 male unaffected Control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Derivative chromosome

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;phenotypically male;bilateral gynecomastia;DNA from fibroblasts hybridizes Y-chromosome-specific DNA probes mapping near to the putative testis determining locus;gene dosage studies consistent with 2 copies of STS

characteristic: description

text: proband

text: 46;XX;46;XX.ish der(X)t(X;Y)(p22.3;p11.3)(SRY+;DXZ1+).arr Yp11.31p11.2(2710425-5680476)x1;46;XX.ish der(X)t(X;Y)(Xqter>Xp22.3::Yp11.3>Ypter)(SRY+;DXZ1+)

text: Homo sapiens

text: Caucasian

text: Male

text: Derivative chromosome

characteristic: tag

text: Translocated chromosome

text: Xx male syndrome

text: GM02670 male affected Derivative chromosome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND06312 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 47 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX in leukocytes and fibroblasts;clinically normal;mother of GM02626

text: cousin-in-law

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: Xx male syndrome

text: GM02671 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 54 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND06337 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 48 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY in leukocytes;clinically normal;father of GM02626

text: paternal cousin

text: 46;XY.ish X(DXZ1+);Y(SRY+)

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: Xx male syndrome

text: GM02672 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Control

text: Population/convenience control

text: ND06338 male unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 33 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;46;XY;large Y chromosome in all cells

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM02673 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive supranuclear palsy

text: 84 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06356

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Progressive supranuclear palsy

text: ND06355 male affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 29 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;45;X{24}/46;XX{76} with 10% of the cells examined showing random chromosome loss/gain

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM02674 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 82 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND06355

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND06356 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM02639 Fibroblast;HLA type A1;B8/ A10;B18;non-diabetic;2 affected sibs

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02675 male unaffected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND6362

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND06361 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Diabetes mellitus

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 2;on Insulin;HLA type A1;B8/A10;B18;similarly affected sib;see GM02637 Fibroblast

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

characteristic: tag

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02676 male affected Diabetes mellitus sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND06361

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND06362 female unaffected Control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Diabetes mellitus

text: 24 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 6;HLA type A1;B8/Aw31;Bw40;see GM02613 Fibroblast;similarly affected brother

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02677 female affected Diabetes mellitus sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: same subject as ND31618

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND06363 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Diabetes mellitus

text: 27 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Onset at age 18 months;on Insulin;HLA type A1;B8/A1;--;see GM02614 Fibroblast

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02678 male affected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND06364 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM02615 Fibroblast;HLA type A1;B8/ A1;--;non-diabetic

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

characteristic: tag

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02679 male unaffected Diabetes mellitus sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 21 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND06365 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;HLA type A1;B8/A2;Bw15;see GM02616 Fibro;2 affected children

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02680 male unaffected Diabetes mellitus sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND06366 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 36 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected

text: Homo sapiens

text: Caucasian

text: Female

text: GM02681 female affected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND06383 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Androgen receptor

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Thigh skin

text: sister

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: AR

text: Androgen receptor

text: GM02682 female affected Androgen receptor sample


text: Coriell

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND06384 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Androgen receptor

text: 7 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Genital skin;46;XY;same patient as GM02682

characteristic: description

text: sister

text: Homo sapiens

text: Black

text: Female

text: AR

text: Androgen receptor

text: GM02683 female affected Androgen receptor sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND06389 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Neuraminidase deficiency

text: 14 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Zero to 12% normal neuraminidase activity;normal B-glucuronidase and B-hexosaminidase levels;Hurler-like face;skeletal abnormalities;mental retardation;and cherry-red macular spot

text: Homo sapiens

text: Caucasian

text: Male

text: Neuraminidase deficiency

text: GM02685 male affected Neuraminidase deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND06393

text: proband

text: Homo sapiens

text: Caucasian

text: Male

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

text: PD

text: Parkinson disease

text: ND06392 male affected Young onset parkinsons panel: affected individuals sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father of an affected child;proband not in Repository;spouse of GM02660A;GlcNAc-Phosphotransferase activity = 82% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject has one allele which has a triplication in exon 13 of the GNPTAB gene 1902_1905tripTATA resulting in a frameshift and truncation of the protein in the alpha subunit and no beta subunit S581fsX588 .

text: FRENCH/SWEDISH

characteristic: ethnicity

characteristic: family id

text: parent

text: GNPTAB

characteristic: gene

characteristic: mutation

text: 4-BP TRIP

text: Homo sapiens

text: Caucasian

text: Male

text: ML II

text: GNPTAB

text: Mucolipidosis ii

text: GM02687 male unaffected N-acetylglucosamine-1-phosphotransferase alpha/beta subunits sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 33 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND06392

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND06393 female unaffected Control panel for young onset parkinsons: unaffected individuals sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;possible heterozygote

characteristic: description

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Homocystinuria

text: GM02688 male unaffected Homocystinuria sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: PD

text: 72 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND06395

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Late onset parkinsons dna panel: affected individuals

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND06394 male affected PD sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Homocystinuria

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Dislocation of left optic lens;glaucoma of right eye;left sided seizures

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Homocystinuria

text: GM02689 male affected Homocystinuria sample


text: Coriell

text: live

text: Generic

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND06394

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Population/convenience control

text: ND06395 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample