characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 22 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX/46;XX;add(9)(p);96%/4% in lymphoblast culture;46;XX in leukocytes

text: proband

text: 46;XX;del(16)(pter>q11.2:) 3 /46;XX;del(16)(pter>q11.2:);del(16)(pter>q11.2:) 2 /46;XX;add(9)(qter>p21:?) 1 /46;XX 44;46;XX/46;XX;9p+;46;XX/46;XX;add(9)(p)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM02254 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

tag: attribute

text: 60 YR

characteristic: age

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: Female

characteristic: sex

text: Parkinsons panel: caucasian from the united states

characteristic: tag

text: PD

text: Parkinson disease

text: ND05416 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Dystonia 1, torsion

text: 14 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Jewish;onset at age 8 yrs;minimal action dystonia;greatest difficulty with speech and chewing;parents are healthy

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Dystonia 1, torsion

text: GM02264 female affected Dystonia 1, torsion sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND05419;unaffected father is ND05420

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND05418 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Hemoglobin--beta locus

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Sicilian;homozygous delta-beta thalassemia;similarly affected sib

text: SICILIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Hemoglobin--beta locus

text: HBB

text: GM02266 female affected Hemoglobin--beta locus sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother of ND05418;unaffected spouse is ND05420

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND05419 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Hemoglobin--beta locus

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Sicilian;homozygous delta-beta thalassemia;the 3' breakpoint is located approximately 5 kb to the 3' side of the B-globin gene;the overall deletion comprises approximately 13 kb

text: SICILIAN

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Hemoglobin--beta locus

text: HBB

text: GM02267 female affected Hemoglobin--beta locus sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND05418;unaffected spouse is ND05419

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND05420 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Mucopolysaccharidosis type ii

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Rare Hunter's in female;excessive mucopolysaccharide accumulation correctable by Hunter factor;46;XX;deficient iduronate sulfatase activity

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Mucopolysaccharidosis type ii

text: GM02268 female affected Mucopolysaccharidosis type ii sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND05432 female affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 18 FW

characteristic: age

text: Amniotic fluid-derived cell line

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Homo sapiens

text: Caucasian

text: Male

text: GM02269 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND05434 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Mucolipidosis ii

text: 2 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Low levels of activity for several lysosomal enzymes;same patient as GM01423;undetectable level of N-acetylglucosaminylphosphotransferase activity;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 136 of the GNPTAB gene 136C>T resulting in a substitution of a termination codon for arginine at codon 46 Arg46Ter (R46X) and a second allele has a two basepair deletion at nucleotide 3503 3503 delTC of the GNPTAB gene

text: proband

text: GNPTAB

characteristic: gene

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ML II

characteristic: tag

text: Mucolipidosis ii

text: GM02273 male affected Mucolipidosis ii sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND05437 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of GM02273G;GlcNAc-Phosphotransferase activity = 66% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject has one allele which has a 2-bp deletion in exon 19 of the GNPTAB gene 3665_3666delTC resulting in a frameshift and truncation of the protein in the beta subunit L1168fsX1172 .

characteristic: description

text: mother

text: GNPTAB

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: ML II

text: GNPTAB

text: Mucolipidosis ii

text: GM02274 female unaffected N-acetylglucosamine-1-phosphotransferase alpha/beta subunits sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Female

text: ND05452 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Lesch-nyhan syndrome

text: 19 FW

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fetal skin fibroblast culture;see also GM02292C Lymphoid & GM02338 Amniotic;same patient as GM02291;HPRT deficient;positive family history

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: LNS

text: Lesch-nyhan syndrome

text: GM02290 male affected Lesch-nyhan syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Male

characteristic: sex

characteristic: tag

text: ND05453 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

characteristic: INSDC status

text: Generic

text: Lesch-nyhan syndrome

text: 19 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fetal lung fibroblast culture;see also GM02292C Lymphoid and GM02338 Amniotic;same patient as GM02290A;HPRT deficient;positive family history

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: LNS

text: Lesch-nyhan syndrome

text: GM02291 male affected Lesch-nyhan syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Female

text: ND05454 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Lesch-nyhan syndrome

text: 19 FW

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Similarly affected brother;see GM02290A & GM02291 Fibroblast & GM02338 Amniotic;nonviable in HAT medium;no detectable stable HPRT mRNA

characteristic: description

text: ENGLISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: LNS

text: Lesch-nyhan syndrome

text: GM02292 male affected Lesch-nyhan syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND05462

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND05461 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 14 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Cuban;bilateral congenital glaucoma;loose skin;hyperpigmented skin;hypertrophic scars;father and brother are similarly affected

text: CUBAN

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM02293 female affected Ehlers-danlos syndrome: type unclassified sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: PD

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND05461

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND05462 male affected PD sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 10 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;born at 8 months gestation due to placenta previa;bilateral polydactyly and hypospadias noted at birth;IVP demonstrated obstruction at the left ureteropelvic junction and possible vesicoureteral reflux with minimal dilation of the calyces;in first week of life chest x-ray suggested right lower lobe infiltrate;ADA deficiency of red blood cells was identified through neonatal screening for inherited disordes;normal thymic shadow;height and weight progressed from 3rd to 25th percentile at 20 months of age;normal development;transient hypogammaglobulinemia;normal serum levels of IgG;IgM;IgA;& IgE at 10-12 months of age;eosiniphilia but isoagglutinins are present;deficient RBC ADA activity;partial ADA deficiency in fibroblasts & lymphoblasts;enzyme phenotypes: 6PGD=A;G6PD=B;ADA=1;Neutral A-glucosidase C=2;donor subject is homozygous for a G>A transition at nucleotide 643 in exon 7 of the ADA gene 643G>A resulting in a substitution of threonine for alanine at codon 215 Ala215Thr(A215T);same donor as GM01997 fibroblast.

text: proband

text: ADA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: Severe combined immunodeficiency autosomal recessive

characteristic: tag

text: Adenosine deaminase

text: ADA

text: GM02294 male affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 47 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND05466 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 67 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND05500

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND05499 female affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Torg-winchester syndrome

text: 21 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Puerto Rican;rheumatoid arthritis;coarse facies;corneal opacity;increased intracellular uronic acid level in fibroblasts;similarly affected sib

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Torg-winchester syndrome

text: GM02295 female affected Torg-winchester syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND05499

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Population/convenience control

text: ND05500 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Androgen receptor

text: 8 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;genital skin fibroblast culture;half-sister of GM02682;positive family history;same pt as GM02300A and 02301

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: AR

characteristic: tag

text: Androgen receptor

text: GM02299 female affected Androgen receptor sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 64 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Affected spouse is ND05502.

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND05501 male unaffected Control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Androgen receptor

text: 8 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;non-genital skin fibroblast culture;same patient as GM02299 and 02301

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Female

text: AR

text: Androgen receptor

text: GM02300 female affected Androgen receptor sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND05501.

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from north america

text: PD

text: Parkinson disease

text: ND05502 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Androgen receptor

text: 8 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;gonad fibroblast culture;same patient as GM02299 and 02300A

text: proband

text: Homo sapiens

text: Black

text: Female

text: AR

text: Androgen receptor

text: GM02301 female affected Androgen receptor sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND05503 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Porphyria - coproporphyria

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;see GM00962 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Porphyria - coproporphyria

characteristic: tag

text: GM02302 female affected Porphyria - coproporphyria sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 46 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

text: ND05508 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Porphyria variegata

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Porphyria variegata

text: GM02303 female affected Porphyria variegata sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND05510 male affected Subarachnoid hemorrhage sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Dystonia 1, torsion

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM02305 Lymphoid;onset at age 7;at time of biopsy very little speech and considerable dystonia of all extremities

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Dystonia 1, torsion

text: GM02304 female affected Dystonia 1, torsion sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND05511 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Dystonia 1, torsion

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM02304 Fibroblast;onset at age 7 years;at time of venipuncture has very little speech and considerable dystonia of all extremities

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Dystonia 1, torsion

text: GM02305 female affected Dystonia 1, torsion sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 78 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: half-sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND05515 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Dystonia musculorum deformans 2

text: 13 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM02307 Lymphoid;onset at age 10;father is Jewish

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Dystonia musculorum deformans 2

text: GM02306 male affected Dystonia musculorum deformans 2 sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 67 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND05536

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND05535 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Dystonia musculorum deformans 2

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM02306 Fibroblast;onset at age 10 years;father is Jewish

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Dystonia musculorum deformans 2

text: GM02307 male affected Dystonia musculorum deformans 2 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND05535

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND05536 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Farber lipogranulomatosis

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deficient acid ceramidase;daughter of GM02316 and 02317

text: IRISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Farber lipogranulomatosis

text: GM02314 female affected Farber lipogranulomatosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 37 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND05548 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Farber lipogranulomatosis

text: 7 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mild disease (Farber disease subtype 3);late onset of disease at 20 months;died at age 30;a sister with similar clinical history died at age 18;deficient acid ceramidase;donor subject is homozygous for an A>T transversion at nucleotide 413 in exon 6 of the ASAH gene resulting in the substitution of valine for glutamic acid at codon 138 Glu138Val (E138V)

text: ITALIAN

text: ASAH

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Farber lipogranulomatosis

characteristic: tag

text: GM02315 female affected Farber lipogranulomatosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: uncle

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND05550 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 37 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Irish descent;clinically unaffected father of GM02314

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Farber lipogranulomatosis

text: GM02316 male unaffected Farber lipogranulomatosis sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND05554 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 37 YR

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Irish descent;clinically unaffected

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Farber lipogranulomatosis

text: GM02317 female unaffected Farber lipogranulomatosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND05555 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 27 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother of GM02325 Fibroblast

text: mother

text: 46;XX;9qh+;t(16;22)(16qter>16p13.11::22q11.21 >22qter;22pter>22q11.21::16p13.11> 16pter);46;XX;t(16;22)(16qter>16p13.11::22q11.21 >22qter;22pter>22q11.21::16p13.11> 16pter);9qh+

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM02324 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: twin sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND05567 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 11 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Daughter of GM02324A Lymp;anophthalmia;congenital heart defect;increased simian crease;asymmetrical ear position;hypertrophic gingiva;widespread nipples;hypoplastic nails;frontal bossing;and flat nasal bridge;2 maternal and 1 paternal A-globin gene cluster copies

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM02325 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father is ND05588;unaffected mother is ND05587

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND05586 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 4 MO

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mennonite;pericardium biopsy;deficient branched-chain keto-acid decarboxylase

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM02327 female affected Maple syrup urine disease (msud) type ia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 36 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother of ND05586;unaffected spouse of ND05588

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND05587 female 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: 4 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: First affected child of clinically normal parents;normal fibroblast alkaline phosphatase activity

text: Homo sapiens

text: Caucasian

text: Male

text: LETHAL

text: GM02328 male affected Osteogenesis imperfecta: genetics uncertain sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND05586;unaffected spouse of ND05587

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND05588 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 18 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 10% of fibroblasts show the +9;small for age;small upslanting palpebral fissures;micrognathia;and clinodactyly

characteristic: description

text: 47;XX;+9 5 /46;XX 45

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 9

text: GM02329 female unaffected Aneuploid chromosome number - trisomy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND05594 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Lesch-nyhan syndrome

text: 20 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Variant;normal intelligence;no selfmutilation;HPRT activity in fibroblasts is reduced but not absent;cells survive in HAT medium

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: LNS

text: Lesch-nyhan syndrome

text: GM02330 male affected Lesch-nyhan syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND05597 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Metachromatic leukodystrophy

text: 5 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Infantile type;deficient arylsulfatase A

text: Homo sapiens

text: Caucasian

text: Male

text: Metachromatic leukodystrophy

characteristic: tag

text: GM02331 male affected Metachromatic leukodystrophy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND05602

text: spouse

text: Homo sapiens

text: African American

text: Female

text: Control

text: Ndpt111 - neurologicaly normal african american conrol panel

text: Population/convenience control

text: Ndpt031- african american control panel

text: ND05601 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Tuberous sclerosis

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal skin;seizures;mental retardation;shagreen patches;adenoma sebaceum;same patient as GM02333

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tuberous sclerosis

text: TS

text: GM02332 male affected Tuberous sclerosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND05601

text: proband

text: Homo sapiens

text: African American

text: Male

text: PD

text: Parkinson disease

text: ND05602 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tuberous sclerosis

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Subungual fibroma fibroblast culture;same patient as GM02332

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tuberous sclerosis

text: TS

text: GM02333 male affected Tuberous sclerosis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: PD

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND05653

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: ND05603 male affected PD sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;heterozygote;G6PD(B)/G6PD(med);Xg(a) antigen positive;son is GM02335 Fibroblast;G6PD genotype is 563C>T Ser188Phe (S188F) /+

text: mother

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Glucose-6-phosphate dehydrogenase

text: GM02334 female unaffected Glucose-6-phosphate dehydrogenase sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND05610 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: G6PD(B);Xg(a) antigen absent;hypogonadism;parents are GM02334 and GM02336 Fibroblast

text: proband

text: 46;XY;inv(5)(pter->p15::q12->p15::q12->qter).arr 5q32(146390480-146572927)x4;46;XY;inv(5)(pter>p15::q12>p15:: q12>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Inverted chromosome

characteristic: tag

text: GM02335 male unaffected Inverted chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND05611 female affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;G6PD(B);Xg(a) antigen positive;son is GM02335 Fibroblast;negative for G6PD 563C>T(Ser188Phe{S188F})mutation

characteristic: description

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Glucose-6-phosphate dehydrogenase

text: GM02336 male unaffected Glucose-6-phosphate dehydrogenase sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 65 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Intracranial aneurysm - unruptured

text: ND05612 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 35 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Cri du Chat

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Chromosome deletion

text: GM02337 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND05614

text: proband

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

text: ND05613 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Lesch-nyhan syndrome

text: 15 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: 46;XY;see GM02290A and GM02291 Fibroblast and GM02292C Lymphoid;2 similarly affected brothers and a maternal uncle

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: LNS

characteristic: tag

text: Lesch-nyhan syndrome

text: GM02338 male affected Lesch-nyhan syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND05613

characteristic: family id

text: mother

text: Homo sapiens

text: African American

text: Female

text: ND05614 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mild case;skin blotching;increased sweating;absent deep tendon reflexes;no flare response to histamine test;no fungiform papillae on tongue;some hematemesis secondary to esophagitis especially during infection;occasional pneumonia;severe kyphosis and scoliosis;postural hypotension but tends to be hypertensive;renal biopsy showed about 40% ischemic glomerulosclerosis;fairly normal height;affected brothers are GM02342 and GM09826;mother is GM09829;father is GM09830;unaffected siblings are GM09827 and GM09828.

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM02341 male affected Neuropathy, hereditary sensory and autonomic type iii sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mild case;skin blotching;increased sweating;absent deep tendon reflexes;no flare response to histamine test;no fungiform papillae on tongue;corneal problems when younger;optic atrophy;postural hypotension;marked kyphosis;mild scoliosis;normal height;delayed onset of puberty;seizures;affected brothers are GM02341 and GM09826;mother is GM09829;father is GM09830;unaffected siblings are GM09827 and GM09828.

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM02342 male affected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Kinase-complex associated protein

text: 24 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mild case;skin blotching;increased sweating;absent deep tendon reflexes;no flare response to histamine test;no fungiform papillae on tongue;severe corneal problems and was legally blind until a corneal transplant;vomiting crsis approximately every 6 months;spinal problems with some minor rotation of vertebrae;postural hypotension;normal height;menarchy started at 15 years and was very irregular;mother is GM04634/GM04635;father is GM04632;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA;donor subject is also heterozygous for a silent polymorphism in the ASPA gene: 693C>T Tyr231Tyr (Y231Y)

text: proband

text: ASPA;IKBKAP

characteristic: gene

characteristic: mutation

text: T>C

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Inhibitor of kappa light polypeptide gene enhancer in b cells

text: Neuropathy, hereditary sensory and autonomic type iii

text: Kinase-complex associated protein

text: Aspartoacylase

text: IKBKAP

text: ASPA

text: GM02343 female affected Kinase-complex associated protein sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND05616

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND05615 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP1WI;small for age;speech problems;deficient repair activity;see GM01630 Fibroblast;donor subject is homozygous for a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 of the XPA gene which results in a missplice.

text: proband

text: XPA

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: XPA

text: GM02344 male affected Xeroderma pigmentosum, complementation group a sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND05615

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND05616 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 8 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Japanese;XP20S;severe XP;mental retardation;gait disturbance;see GM04312 SV40 Transformed Fibroblast;< 2% of normal UV induced unscheduled DNA synthesis in fibroblasts;similarly affected sister is GM04314 (Fibroblast);donor subject is homozygous for the G-to-C transversion at the 3-prime splice acceptor site of intron 3 of the XPA gene;abolishing the canonical 3-prime splice site and creating two abnormally spliced mRNA forms.

characteristic: description

text: JAPANESE

characteristic: ethnicity

text: proband

text: XPA

characteristic: gene

text: 3-PRIME SPLICE SITE

characteristic: mutation

text: INTRON 3

text: Homo sapiens

text: Asian

text: Female

text: XPA

text: GM02345 female affected Xeroderma pigmentosum, complementation group a sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 74 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: ND05627 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 3 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hydrocephalus;hypospadias;and minor dysmorphic features

text: 46;XY;t(4;16)(4pter>4q35::16q22.1> 16qter;16pter>16q22.1::4q35>4qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM02346 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND05629 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Dystonia 1, torsion

text: 21 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Swedish descent;onset at age 5 yrs

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Dystonia 1, torsion

text: GM02347 female affected Dystonia 1, torsion sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 51 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: African American

text: Male

text: Subarachnoid hemorrhage

text: ND05635 male affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Affected father;grandmother;greatgrandfather;and greatgreatgrandmother;numerous sm polyps present in the cecum;rectum;and sigmoid;culture is derived from a skin (arm) biopsy;46;XX;22p+;slight hypersensitivity to UV induced cell killing

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: APC

text: Adenomatous polyposis of the colon

text: GM02355 female affected Adenomatous polyposis of the colon sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND05637 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: POLH

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Variant;DNA excision repair is normal;DNA post-replication repair is abnormal;Iranian;XP115LO;same patient as GM02111;parents are first cousins;donor subject is homozygous for a C>T transition at nucleotide 1117 of the POLH gene (1117C>T) resulting in the substitution of a premature termination codon for valine at codon 372 Val372Ter (V372X)

text: proband

text: POLH

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Polymerase

text: Xeroderma pigmentosum, variant type

text: ETA

text: DNA

text: POLH

text: XPV

text: GM02359 male affected POLH sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND05641 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Coffin-lowry syndrome

text: 14 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;short stature;unusual facies;tapering fingers;positive family history

characteristic: description

text: 46;XY;inv(2)(pter->p11.2::q13->p11.2->qter).arr 2q37.3(242423651-242672554)x1;46;XY;inv(2)(pter>p11.2::q13>p11.2::q13> qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Coffin-lowry syndrome

text: CLS

text: Inverted chromosome

text: GM02365 male affected Coffin-lowry syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND05603

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND05653 female unaffected Control panel for late onset parkinsons: unaffected individuals sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Carrier;heterozygous levels of hexosaminidase A;donor subject is heterozygous for a 4-bp insertion at nucleotide 1278 in exon 11 of the HEXA gene 1278insTATC that introduces a premature termination signal in the exon resulting in deficiency of mRNA;donor subject is also heterozygous for a silent polymorphism in the ASPA gene: 693C>T Tyr231Tyr (Y231Y)

text: ASPA;HEXA

characteristic: gene

text: 4-BP INS

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tay-sachs disease

text: Hexosaminidase a

text: TSD

text: HEXA

text: Aspartoacylase

text: ASPA

text: GM02366 male unaffected HEXA sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 25 MO

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND05670 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Familial hypercholesterolemia

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Proband not in Repository;elevated serum cholesterol;2 similarly affected children

characteristic: description

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: FHC

text: Familial hypercholesterolemia

text: GM02373 male affected Familial hypercholesterolemia sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 20 MO

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

text: ND05671 male affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Phenylketonuria

text: 2 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;pyloric stenosis;normal level of dihydropteridine reductase in skin fibroblasts;donor subject is a compound heterozygote: one allele has a T>G transversion at nucleotide 896 in exon 8 of the PAH gene 896T>G resulting in a substitution of cysteine for phenylalanine at codon 299 Phe299Cys (F299C) and a second allele has a C>T transition at nucleotide 1222 in exon 11 of the PAH gene 1222C>T resulting in a substitution of tryptophan for arginine at codon 408 Arg408Trp (R408W) .

text: PAH

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Phenylketonuria

text: GM02406 male affected Phenylketonuria sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: PD

text: Parkinson disease

text: ND05690 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 15 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Formerly GM01027;HLA type A2;B12/A1;B8;deficient galactose-1-phosphate uridyl transferase;similarly affected sib;see GM00441 Fibroblast;46;XY in fibroblasts;GALT gene mutations: Gln188Arg (Q188R) / Gln188Arg (Q188R)

characteristic: family id

text: proband

text: GALT

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GALT

characteristic: tag

text: Galactosemia

text: GM02412 male affected Galactose-1-phosphate uridylyltransferase sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: WELSH

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND05691 female unaffected Control sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Dna damage-binding protein 2

text: 34 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP2RO;ATCC CRL 1259;2nd cousin of XP3RO (GM02450F Lymphoid);clinically affected;increased incidence of chromatid gaps following X ray irradiation;donor subject has a G>A transition at nucleotide 818 of the DDB2 gene (818G>A) resulting in the substitution of histidine for argine at codon 273 Arg273His (R273H)

characteristic: description

text: proband

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Xeroderma pigmentosum, complementation group e

text: Dna damage-binding protein 2

text: GM02415 female affected Dna damage-binding protein 2 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: PD

text: Parkinson disease

text: ND05692 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Diabetes mellitus

text: 42 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM02417 Lymphoid;mother and 2 sibs are also diabetic

characteristic: family id

text: proband

text: Homo sapiens

text: American Indian

text: Female

characteristic: sex

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02416 female affected Diabetes mellitus sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: WELSH

text: daughter-in-law

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND05693 female unaffected Control sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Diabetes mellitus

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother & siblings are also affected;see GM02416 Fibroblast

text: proband

text: Homo sapiens

text: American Indian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02417 female affected Diabetes mellitus sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinsonism

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: ENGLISH/WELSH

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: OTHER

text: Parkinsonism

text: ND05694 male affected Parkinsonism sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 16 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: 46;XX;del(13)(qter>p11:)mat;unbalanced;newborn was phenotypically normal;mother is also clinically normal

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM02421 female unaffected Apparently healthy amniotic fluid cell culture sample


text: Coriell

text: live

text: Generic

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

characteristic: ethnicity

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND05695 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 16 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 18

text: GM02422 female unaffected Aneuploid chromosome number - trisomy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND05706

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

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

characteristic: tag

text: PD

text: Parkinson disease

text: ND05705 female affected Young onset parkinsons panel: affected individuals sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Mucolipidosis iiia

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Deficient fibroblast B-hexosaminidase;B-galactosidase;A-fucosidase;A-galactosidase;A-mannosidase;neuraminidase;& GLcNAc phosphotransferase activity;excessive inclusion bodies in cytoplasm;complementation group A;GlcNAc-Phosphotransferase activity = 1% (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 an A>T transversion in exon 5 of the GNPTAB gene 733A>T resulting in mRNA with a 4-bp deletion causing a frameshift at the 3'-end of the exon 5 sequence D190fsX211 and a second allele has a 2-bp deletion in exon 19 of the GNPTAB gene 3665_3666delTC resulting in a frameshift and truncation of the protein in the beta subunit L1168fsX1172 .

text: GNPTAB

characteristic: gene

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

text: GNPTAB

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

text: Mucolipidosis iiia

text: GM02425 male affected Mucolipidosis iiia sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND05705

characteristic: description

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND05706 male unaffected Control panel for young onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 12 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: 46;XY;t(5;6)(5qter>5p15::6p21>6pter;6qter>6p21::5p15>5pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM02426 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother is ND05719

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: Epilepsy, focal: caucasian

text: ND05718 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Homocystinuria

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Formerly GM02375;clinically affected

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Homocystinuria

text: GM02429 female affected Homocystinuria sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND05718

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND05719 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Italian;clinically unaffected mother of GM02431

characteristic: description

text: ITALIAN

characteristic: ethnicity

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Lyst included

text: Chediak-higashi syndrome

text: Chs1 lysosomal trafficking regulator included

text: GM02430 female unaffected Chediak-higashi syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 85 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughters are ND05722 and ND05723

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND05721 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Chediak-higashi syndrome

text: 32 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Nystagmus and peripheral neuropathy;formerly GM02378

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Lyst included

text: Chediak-higashi syndrome

text: GM02431 male affected Chediak-higashi syndrome sample


text: Coriell

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND05721;sister of ND05723

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND05722 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;possible heterozygote

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Lyst included

text: Chediak-higashi syndrome

text: GM02432 female unaffected Chediak-higashi syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND05721;sister of ND05722

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND05723 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;carrier level of ADA activity in RBCs;lymphocytes;and fibroblasts;2 affected children;including GM02434;same donor as GM02472 lymphocyte.

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

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

text: GM02433 female unaffected Severe combined immunodeficiency autosomal recessive sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Ischemic stroke

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: African American

text: Female

text: Ischemic stroke

text: Ischemic stroke, african american non-hispanic panel

text: ND05730 female affected Ischemic stroke sample


text: Coriell

text: live

text: Generic

text: 7 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;physical exam at birth was normal;subject was placed in protective isolation after birth and had good weight gain and no infections during the first 6 weeks;no thymic shadow seen on chest x-ray;perianal abscesses were intermittently present between one and ten months of age;normal development;normal kidneys but possible obstruction of left ureter;T cells were 44% and 46% at 3 and 9 days of age;respectively and B cells were 43% and 19%;respectively;leukopenia;immunoglobulin levels at 20 days of age were normal;deficient RBC & fibroblast ADA activity;residual ADA activity could be detected in mononuclear-cell/platelet preparations;less than 1.5% of ADA activity was seen in amniotic fluid cells;enzyme phenotypes: G6PD=B;6PGD=A;peptidases A;C;& D=1;& PGM 1 & 3=1;donor subject is a compound heterozygote: one allele has a T>G transversion at nucleotide 911 in exon 10 of the ADA gene 911T>G resulting in a substitution of arginine for leucine at codon 304 Leu304Arg (L304R) and a second allele has a C>T transition at nucleotide 466 of the ADA gene 466C>T resulting in a substitution of cysteine for arginine at codon 156 Arg156Cys (R156C);affected sister died at 9 months of age;mother is GM02433;same donor as GM02471 lymphocyte.

characteristic: family id

text: proband

text: ADA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Severe combined immunodeficiency autosomal recessive

text: Adenosine deaminase

text: ADA

text: GM02434 male affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: Subarachnoid hemorrhage, caucasian from north america

text: ND05748 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 25 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;affected son is GM02436.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM02435 female unaffected Severe combined immunodeficiency autosomal recessive sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND05751 female affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Swiss;deceased;deficient ADA activity in fibroblasts;donor subject has one allele that has a G>A transition at nucleotide 646 in exon 7 of the ADA gene 646G>A resulting in a substitution of arginine for glycine at codon 216 Gly216Arg(G216R);mother is GM02435 and father is GM02447.

characteristic: description

text: SWISS

characteristic: ethnicity

text: proband

text: ADA

text: Homo sapiens

text: Caucasian

text: Female

text: Adenosine deaminase

text: ADA

text: GM02436 female affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 71 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: ND05752 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Diabetes mellitus

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Both parents are also diabetic

text: PIMA

text: proband

text: Homo sapiens

text: American Indian

text: Male

characteristic: sex

text: Diabetes mellitus

characteristic: tag

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02440 male affected Diabetes mellitus sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND05760 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Diabetes mellitus

text: 36 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Both parents are also diabetic

text: PIMA

text: proband

text: Homo sapiens

characteristic: organism

text: American Indian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02442 female affected Diabetes mellitus sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND05774 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;failure to thrive;multiple pneumonias and oral/skin moniliasis;long-term hospitalization starting at age 26 months: immunologic studies showed variable but persistent lymphopenia;low numbers of T lymphocytes;relatively increased percentage of B lymphocytes;bone marrow aspirate with few lymphocytes or plasma cells;lymph node biopsy revealed a hypoplastic node with follicles but largely absent T-dependent areas and sinus histiocytosis;quantitative immunoglobins remained normal;height and weight increased to 25th-50th percentile by age 6 years but subject remained lymphopenic;between ages 11-14 years the absolute lymphocyte count was normal with a normal percentage of T cells;no medical problems at age 20 years (no theapy from age 13-20 years);HLA type A2;30;B7;39;enzyme phenotypes: 6PGD=A;G6PD=A;Peptidases A;C;&D=1;Acid A-glucosidase=1;Neutral A-glucosidase C=3;& GLO-1=2;46;XY;ADA activity shortly after diagnosis was 1% of normal in erythrocytes and 18% of normal in mixed mononuclear cells;ADA in both cultured lymphoid and fibroblast cell lines established at diagnosis showed deficiency of ADA with <1% of normal ADA activity;a lymphoid cell line established at age 16 years exhibited >50% of normal ADA activity;studies performed on the lymphoid and fibroblast cell lines established at the time of diagnosis found the donor subject to be a compound heterozygote: one allele has a G>A transition at nucleotide 302 in exon 4 of the ADA gene 302G>A resulting in a substitution of glutamine for arginine at codon 101 Arg101Gln(R101Q) and a second allele has a splice-donor-site mutation in IVS1(+1GT>CT) resulting in an unstable mRNA;the B cell line expressing ADA activity (established at age 16 years) contained the missense Arg101Gln mutation but lacked the splice-site mutation;donor subject determined to have somatic mosaicism;same donor as GM01715 lymphocyte.

characteristic: description

text: proband

text: ADA

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: G>C

text: Homo sapiens

text: Black

text: Male

text: Adenosine deaminase

text: ADA

text: GM02445 male affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 68 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND05798 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Hispanic;severely affected at an early age;deceased;deficient ADA activity in fibroblasts;no ADA activity in RBC's;donor subject is homozygous for a G>A transition at nucleotide 727 in exon 7 of the ADA gene 727G>A (AKA 632G>A) resulting in a substitution of histidine for arginine at codon 211 Arg211His(R211H) .

text: LATIN AMERICAN

characteristic: ethnicity

text: ADA

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Severe combined immunodeficiency autosomal recessive

characteristic: tag

text: Adenosine deaminase

text: ADA

text: GM02446 female affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND05799 male affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Adrenoleukodystrophy

text: 8 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Adrenoleukodystrophy;mild neurological impairment;not clearly progressive;negative family history;4 normal maternal uncles;content of hexacosanoic acid (26:0) and ratio of 26:0 to 22:0 fatty acids was similar to control fibroblasts

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Adrenoleukodystrophy

text: ALD

text: GM02448 male affected Adrenoleukodystrophy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 51 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND05801 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: POLH

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XPPHBE;variant type;46;XY;8% of cells show random chromosome loss;2% show random gain;normal DNA ligase I and II activity;lymphoblasts synthesize low molecular weight DNA after UV exposure;donor subject has one allele with an insertion of G at nucleotide 1078 of the POLH gene (1078insG) resulting in a frameshift terminating at Asn359 (Asn359fs);the second allele is as yet unidentified

text: POLH

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Polymerase

text: Xeroderma pigmentosum, variant type

text: ETA

text: DNA

text: POLH

text: XPV

text: GM02449 male affected POLH sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND05803.

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND05802 female unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 30 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP3RO;2nd cousin of XP2RO (GM02415B Fibroblast);46;XX;clinically affected

text: second cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM02450 female affected Xeroderma pigmentosum, complementation group e sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: PD

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND05802.

characteristic: description

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: ND05803 male affected PD sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Vitamin b12 metabolic defect type 2

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Cbl D complementation group;normal methylmalonyl CoA mutase activity and cross-reacting material with anti-mutase antiserum

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Vitamin b12 metabolic defect type 2

text: GM02452 male affected Vitamin b12 metabolic defect type 2 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND05816 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 54 MO

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND05819 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 7 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Cbl C complementation group;affected

text: Homo sapiens

text: Caucasian

text: Female

text: cblC TYPE

text: GM02453 female affected Methylmalonic aciduria and homocystinuria sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND05826 male affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Gangliosidosis generalized gm1 type i

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal level of N-acetylgalactosamine 6sulfate sulfatase;low normal beta-galactosidase;donor subject is a compound heterozygote with two mutations in the GLB1 gene: Trp273Leu (W273L)/Arg482His (R482H)

text: sister

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Gangliosidosis generalized gm1 type i

text: Mucopolysaccharidosis type ivb

text: GM02455 female affected Gangliosidosis generalized gm1 type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND05827 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Two affected children;clinically unaffected father of GM01602 and 02455

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Mucopolysaccharidosis type ivb

text: GM02456 male unaffected Mucopolysaccharidosis type ivb sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND05828 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;physical exam at birth was normal;subject was placed in protective isolation after birth and had good weight gain and no infections during the first 6 weeks;no thymic shadow seen on chest x-ray;perianal abscesses were intermittently present between one and ten months of age;normal development;normal kidneys but possible obstruction of left ureter;T cells were 44% and 46% at 3 and 9 days of age;respectively and B cells were 43% and 19%;respectively;leukopenia;immunoglobulin levels at 20 days of age were normal;deficient RBC & fibroblast ADA activity;residual ADA activity could be detected in mononuclear-cell/platelet preparations;less than 1.5% of ADA activity was seen in amniotic fluid cells;enzyme phenotypes: G6PD=B;6PGD=A;peptidases A;C;& D=1;& PGM 1 & 3=1;donor subject is a compound heterozygote: one allele has a T>G transversion at nucleotide 911 in exon 10 of the ADA gene 911T>G resulting in a substitution of arginine for leucine at codon 304 Leu304Arg (L304R) and a second allele has a C>T transition at nucleotide 466 of the ADA gene 466C>T resulting in a substitution of cysteine for arginine at codon 156 Arg156Cys (R156C);affected sister died at 9 months of age;mother is GM02472;same donor as GM02434 fibroblast.

text: proband

text: ADA

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Severe combined immunodeficiency autosomal recessive

characteristic: tag

text: Adenosine deaminase

text: ADA

text: GM02471 male affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND05831 male affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;carrier level of ADA activity in RBCs;lymphocytes;and fibroblasts;2 affected children;including GM02471;same donor as GM02433 fibroblast.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

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

text: GM02472 female unaffected Severe combined immunodeficiency autosomal recessive sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND05833 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;46;XX;12% of cells show random chromosome loss

characteristic: description

text: mother

characteristic: karyotype

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: XPD

text: GM02473 female unaffected Xeroderma pigmentosum, complementation group d sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial rupture-status undefined

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial rupture-status undefined

text: ND05834 female affected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Affected daughter is GM01629 Fibroblast

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: CSB

characteristic: tag

text: Cockayne syndrome type b

text: GM02474 male unaffected Cockayne syndrome type b sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 30 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND05835 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 10 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Zulu;XP6JO;no neurological abnormalities;no mental retardation

text: ZULU

characteristic: ethnicity

text: Homo sapiens

text: Black

text: Female

text: GM02476 female affected Xeroderma pigmentosum: complementation group undetermined sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Dementia with lewy bodies

text: 81 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected daughter is ND05884.

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Dementia with lewy bodies

text: ND05840 female affected Dementia with lewy bodies sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP7BE;25-50% of normal UV induced unscheduled DNA synthesis in fibroblasts;same patient as GM02590;46;XX

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: XPD

text: GM02485 female affected Xeroderma pigmentosum, complementation group d sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND05845

characteristic: family id

text: proband

text: Homo sapiens

text: African American

text: Male

characteristic: sex

text: Epilepsy

text: ND05844 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Passage 5 at IMR;translocation is present in all cells;different cells show different aberrations including X chromosome aberrations

text: mother

text: 46;XX;t(5;15)(5qter>5p13::15p11>15pter;15qter>15p11::5p13>5pter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM02487 female unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 34 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND05844

text: mother

text: Homo sapiens

text: African American

text: Female

text: ND05845 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Passage 6 at IMR

text: proband

text: 46;XY;der(15)(15qter>15p11::5p13>5pter)mat

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM02488 male unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 56 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND05859 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Joint laxity;thin skin;similarly affected sister

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM02490 female affected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

text: ND05863 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 38 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;family history of recurrent abortions

text: 46;XY;t(9;13)(9qter>9p22 or p23::13q14 or q21>13qter;13pter>13q14 or q21::9p22 or p23>9pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

characteristic: tag

text: GM02492 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND05864 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Schizophrenia

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01488 Lymphoid;paralogical thinking;affective shielding;splitting of affect from content;and suspiciousness;onset at age 15;hospitalized;positive family history

text: JEWISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Schizophrenia

text: SCZD

text: GM02497 male affected Schizophrenia sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 61 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: WELSH

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND05875 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP9BE;46;XY;10-20% of normal UV induced unscheduled DNA synthesis in fibroblasts;see GM00676 Fibroblast

characteristic: description

text: twin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: XPC

text: GM02498 male affected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: WELSH

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

characteristic: tag

text: Population/convenience control

text: ND05876 male unaffected Control sample