text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND00079: second cousin is ND00156

text: proband

text: Homo sapiens

characteristic: organism

text: African American

text: Male

text: PD

text: Parkinson disease

text: ND00079 male affected Parkinson disease sample

characteristic: title


status: PUBLIC

tag: attribute

characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Wilson disease

text: 9 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Asymptomatic;patient on penicillamine;fibroblasts show elevated intracellular copper concentration

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Wilson disease

characteristic: tag

text: GM00032 female affected Wilson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00238;unaffected sister is ND00240

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from north america

text: PD

text: Parkinson disease

text: ND00082 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Wilson disease

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibroblasts show elevated intracellular copper concentration

text: Homo sapiens

text: Caucasian

text: Male

text: Wilson disease

text: GM00033 male affected Wilson disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00087;father of ND00369

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND00085 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Hurler syndrome

text: 9 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Deficient Alpha-L-Iduronidase;46;XX;Hurler syndrome

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Hurler syndrome

text: GM00034 female affected Hurler syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Control

characteristic: tag

text: Population/convenience control

text: ND00086 male unaffected Control sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Marfan syndrome

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;kyphoscoliosis;tall;long arms

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: MFS

text: Marfan syndrome

text: GM00035 male affected Marfan syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: Same individual as ND00368;unaffected spouse is ND00085;son is ND00369

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Young onset parkinsons panel: affected individuals

text: PD

text: Parkinson disease

text: Spasmodic torticollis-cervical dystonia

text: ND00087 female affected Young onset parkinsons panel: caucasian subjects from north america sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Marfan syndrome

text: 10 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;kyphoscoliosis;tall;long arms;similarly affected sib

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: MFS

text: Marfan syndrome

text: GM00036 male affected Marfan syndrome sample


text: Coriell

text: live

text: Generic

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND00092 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;Puerto Rican;daughter is GM00041B;see GM00637H (SV40 Transformed GM00037);46;XX;7% of cells show random chromosome loss;7% show random chromosome deletion;and 7% show random chromosome exchange

characteristic: description

text: PUERTO RICAN

characteristic: ethnicity

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM00037 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: ND00093 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: 9 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX;2% of cells show random chromosome loss and 4% show random chromosomal aberrations;skin biopsy;mother is GM00043B

text: daughter

text: Homo sapiens

text: Black

text: Female

text: Apparently healthy non-fetal tissue

text: GM00038 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND00094 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type ii

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Accumulates mucopolysaccharide;correctable by Hunter factor;deficient iduronate sulfatase activity;46;XY

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Mucopolysaccharidosis type ii

text: GM00039 male affected Mucopolysaccharidosis type ii sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Father of an affected son (ND00094) and an unaffected daughter (ND00097)

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Periodic limb movement disorder

text: Restless leg syndrome

text: ND00095 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 3 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Puerto Rican;skin biopsy;mother is GM00037G

text: PUERTO RICAN

characteristic: ethnicity

characteristic: family id

text: daughter

text: 46;XX;47;XX;+20 7 /46;XX;der(1)add(1)(?::1p36.3>1q25::5q35>5qter);der(5)(5pter>5q35::1q25>1qter) 3 /46;XX 40

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM00041 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: Mother of an affected son (ND00094) and an unaffected daughter (ND00097)

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: ND00096 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 25 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;clinically unaffected father of child;GM00034B;with Hurler syndrome

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Hurler syndrome

text: GM00042 male unaffected Hurler syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND00097 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;46;XX;2% of cells show random loss of a single chromosome;daughter is GM00038B

characteristic: description

text: mother

characteristic: karyotype

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM00043 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: maternal uncle

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND00098 male 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: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Congenital malformations;severe retardation;see GM00633 Lymphoid;deletion of 7p21.2p22.1

characteristic: family id

text: proband

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

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: Chromosome deletion

text: GM00044 male unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: maternal first cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: Focal dystonia

text: ND00099 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Cornelia de lange syndrome 1

text: 13 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;some chromosome loss and structural aberrations in 70% of fibroblasts

text: Homo sapiens

text: Caucasian

text: Male

text: Cornelia de lange syndrome 1

text: GM00045 male affected Cornelia de lange syndrome 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 101 YR

text: B-Lymphocyte

text: NINDS Repository

text: maternal great uncle

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND00100 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: CTNS

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Increased intracellular cystine in fibroblasts;donor subject is homozygous for a 5-bp deletion at nucleotide 545 in exon 5 of the CTNS gene 545delTCCTT resulting in a substitution of arginine for isoleucine at codon 69 Ile69Arg (I69R) which causes a termination at codon 73.

characteristic: description

text: CTNS

characteristic: gene

characteristic: mutation

text: 5-BP DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Cystinosis, nephropathic

text: CTNS

text: Cystinosin

text: GM00046 male affected CTNS sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: PD

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: maternal second cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Late onset parkinsons dna panel: affected individuals

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00101 male affected PD sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Mucopolysaccharidosis type ii

text: 9 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Accumulates mucopolysaccharide;correctable by Hunter factor

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type ii

text: GM00047 male affected Mucopolysaccharidosis type ii sample


text: Coriell

text: live

text: Generic

text: 81 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: maternal aunt

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: ND00102 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Xy female - 306100 or 233420

text: 1 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;right gonadal tissue;? H-Y antigen;same patient as GM00083;positive for TDF gene sequences (ZFY)

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Xy female - 306100 or 233420

text: GM00048 female affected Xy female - 306100 or 233420 sample


text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: maternal cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Periodic limb movement disorder

text: Restless leg syndrome

text: ND00103 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Unresponsive to B12;ATCC CCL 124;defective methylmalonyl CoA mutase apoenzyme;G6PD type B

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: GM00050 male affected Methylmalonicaciduria due to methylmalonic coa mutase deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND00104 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Galactosemia

text: 6 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: G6PD Type A;ATCC CCL 132;no detectable transferase activity in RBCs or fibroblasts;negative for Q188R;R333W;and N314D GALT gene mutations

text: brother

text: Homo sapiens

text: Black

text: Male

text: Galactosemia

text: GM00053 male affected Galactosemia sample


text: Coriell

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: ND00105 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Galactosemia

text: 3 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: See also GM00638A (SV40 Transformed) and GM02795A Lymphoid;G6PD type B;same patient as GM01907;deficient transferase and normal kinase activity in fibroblasts

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Galactosemia

text: GM00054 male affected Galactosemia sample


text: Coriell

text: live

text: Generic

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: maternal second cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND00106 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Propionic acidemia

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Propionyl CoA carboxylase activity

text: Homo sapiens

text: Caucasian

text: Female

text: Propionic acidemia

text: GM00056 female affected Propionic acidemia sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.

characteristic: description

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00107 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Propionic acidemia

text: 6 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Propionyl CoA carboxylase activity;affected brother died at age 7;patient had neonatal vomiting and ketoacidosis;at age 6;shows normal growth and development despite intermittent hyperglycinuria and hyperglycinemia

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Propionic acidemia

text: GM00057 female affected Propionic acidemia sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: ND00108 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 19 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Cri du Chat;deletion assumed to be derived rather than a simple deletion;ATCC CCL 90

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM00071 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: ND00109 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: 46;XY;del(4)(:p15.2->qter) 8 /46;XY;del(4)(:p15.2->qter);dup(7)(pter->q32::q32->q21::q32->qter) 2 .arr 4p16.3p15.2(1618261-25512740)x1;46;XY;del(4)(:p16.1->qter) 21 /46;XY;del(4)(:p16.1->qter);dup(7)(pter->q32::q32->q21::q32->qter) 4 .ish del(4)(pter->p16.3::p16.1->qter)(4ptel02+;LSI WHS-;CEP4+;D4S2930+);dup(7)(pter->q32::q32->q21::q32->qter)(wcp7+;CEP7+;VIJyRM2000+);46;XY;del(4)(qter>p14:)

text: Homo sapiens

text: Caucasian

text: Male

text: WHS

text: Wolf-hirschhorn syndrome

text: Chromosome deletion

text: GM00072 male unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND00110 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;has had 6 spontaneous abortions;normal X is late replicating;see GM10073A Lymphoid

characteristic: family id

text: mother

text: 46;X;t(X;14)(Xpter>Xq13::14q32>14qter;14pter>14q32::Xq13>Xqter)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM00073 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: ND00111 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Klinefelter syndrome;der(14) is late replicating in 88% of cells;trisomic for 14pter>14q32;see GM10074 Lymphoid;MYH6 and MYH7 gene probes reveal 3 copies of cardiac alpha- and beta-myosin heavy chain genes

text: proband

text: 47;Y;t(X;14)(Xpter>Xq13::14q32>14qter;14pter>14q32::Xq13>Xqter);+der(14) (14pter>14q32::Xq13>Xqter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM00074 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: uncle

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND00112 male unaffected Population/convenience control sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: TSD

text: 1 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-Jewish;deficient hexosaminidase A;donor subject is homozygous for a 1 bp deletion at nucleotide 436 in exon 4 of the HEXA gene (c.436delG)

characteristic: description

text: HEXA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: Tay-sachs disease

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM00077 male affected TSD sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: maternal first cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Essential tremor-movement disorder

text: ND00113 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 16 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX;two affected children;heterozygote level of N-acetylglucosaminylphosphotransferase;clinically unaffected mother of GM03066C;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 1-bp deletion in exon 12 of the GNPTAB gene 1744delC resulting in a frameshift and truncation of the protein in the alpha subunit and no beta subunit C528fsX546 .

text: mother

text: GNPTAB

text: Homo sapiens

text: Caucasian

text: Female

text: ML II

characteristic: tag

text: GNPTAB

text: Mucolipidosis ii

text: GM00080 female unaffected N-acetylglucosamine-1-phosphotransferase alpha/beta subunits sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: maternal first cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND00114 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 23 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;two affected children;heterozygote level of N-acetylglucosaminylphosphotransferase;clinically unaffected father of GM03066C;GlcNAc-Phosphotransferase activity = 96% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject has one allele which has a 1-bp deletion in exon 8 of the GNPTAB gene 1012delA resulting in a frameshift and truncation of the protein in the alpha subunit and no beta subunit T284fsX288 .

characteristic: description

text: father

text: GNPTAB

text: Homo sapiens

text: Caucasian

text: Male

text: ML II

text: GNPTAB

text: Mucolipidosis ii

text: GM00081 male unaffected N-acetylglucosamine-1-phosphotransferase alpha/beta subunits sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 54 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: maternal third cousin

text: Homo sapiens

text: Caucasian

text: Male

text: ND00115 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Xeroderma pigmentosum, variant type

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Classical symptoms

text: WESTERN EUROPEAN

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Xeroderma pigmentosum, variant type

text: XPV

text: GM00082 female affected Xeroderma pigmentosum, variant type sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND00116 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Xy female - 306100 or 233420

text: 1 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;left gonadal tissue;? H-Y antigen;same patient as GM00048

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Xy female - 306100 or 233420

characteristic: tag

text: GM00083 female affected Xy female - 306100 or 233420 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: maternal second cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND00117 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 1 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies

characteristic: description

text: 47;XY;+22;47;XY;+der(22)(22pter>22q11:: 11q23>11qter)mat

text: Homo sapiens

text: Caucasian

text: Male

text: Aneuploid chromosome number - trisomy

text: GM00084 male unaffected Aneuploid chromosome number - trisomy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 27 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: maternal second cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND00118 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 2 WK

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinical Trisomy 13

text: 46;XY;t(13;13)(13qter>13q10::13q10>13qter);+13

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Translocated chromosome

text: GM00085 male unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: maternal second cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND00120 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: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Buccal smear=18% sex chromatin positive;Turner's syndrome

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Iso x chromosome

text: Turner syndrome

text: GM00088 female unaffected Iso x chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 76 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.

characteristic: description

text: cousin-in-law

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND00121 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal X is late replicating

characteristic: family id

text: proband

text: 46;X;t(X;19)(Xpter>Xq22::19q13.3>19qter;19pter>19q13.3::Xq22>Xqter)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM00089 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 35 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND00122 male 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

characteristic: NCBI submission package

text: Cystinosis, nephropathic

text: 24 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Lung fibroblasts;positive family history;increased intracellular cystine in fibroblasts;same patient as GM00304

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Cystinosis, nephropathic

characteristic: tag

text: CTNS

text: GM00090 male affected Cystinosis, nephropathic sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: description

text: second cousin

characteristic: gene

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00123 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Simpson-golabi-behmel syndrome type 1

text: 1 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: De novo 46;X;t(X;1)(Xpter>Xq26::1q21> 1qter;1pter>1q21::Xq26>Xqter);inv(7) (pter>q11.2::q22>qter);norm X is late replicating;elevated birth weight and length;diaphragmatic hernia

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: Simpson-golabi-behmel syndrome type 1

text: GM00097 female affected Simpson-golabi-behmel syndrome type 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00181

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND00125 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 2 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 12% r(6);5% 46;XX;and 83% polyploid

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ring chromosome

text: GM00109 female unaffected Ring chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 28 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: description

text: sister

characteristic: gene

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND00126 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 9 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Variant;24% - 50% of normal sphingomyelinase activity;a brother died of Niemann-Pick at age 11;fibroblasts show impaired cholesterol esterification;the donor subject is a compound heterozygote;one allele carries a missense mutation C>T at nucleotide 709 (709C>T) in exon 6 of the NPC1 gene;resulting in a substitution of a serine for a proline at codon 237 Pro237Ser (P237S);the second allele carries a 6 bp deletion in exon 14: 2215(or 2217)delTCCTTT(or CTTTTC) which results in the in frame deletion of 2 amino acids (740F;741S)

text: 2215(or 2217)delTCCTTT(or CTTTTC)

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Npc1 gene

text: Niemann-pick disease type c1

text: GM00110 male affected NPC1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.

characteristic: family id

text: mother

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: ND00131 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

characteristic: NCBI submission package

text: Glycogen storage disease iii

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;less than 10% of normal debrancher enzyme activity

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease iii

text: GM00111 female affected Glycogen storage disease iii sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 87 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Father of one affected child (ND00136) and three unaffected children (ND00373;ND00374;and ND00375);spouse of ND00137;grandfather of ND00371 and ND00372.

text: father

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND00135 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Niemann-pick disease type a

text: 10 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: No detectable sphingomyelinase activity and increased cholesterol biosynthesis in fibroblasts;type A;donor subject is homozygous for a T>C transition at nucleotide 905 in exon 2 of the SMPD1 gene 905T>C resulting in a substitution of proline for leucine at codon 302 Leu302Pro (L302P) .

characteristic: description

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: Niemann-pick disease type a

characteristic: tag

text: Sphingomyelin phosphodiesterase 1, acid lysosomal

text: GM00112 male affected Niemann-pick disease type a sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 48 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Mother of two unaffected children (ND00371 and ND00372);mother is ND00137;father is ND00135;unaffected siblings include ND00373;ND00374;and ND00375.

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

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

text: PD

text: Parkinson disease

text: ND00136 female affected Young onset parkinsons panel: affected individuals sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Mucolipidosis iiia

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient fibroblast Alpha-L-iduronidase;B-glucuronidase;B-hexosaminidase;B-galactosidase;A-fucosidase;A-galactosidase;A-mannosidase;and GLcNAc phosphotransferase activity;complementation group A;GlcNAc-Phosphotransferase activity = 12% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts);donor subject is homozygous for an A>C transversion at nucleotide 174 in exon 1 of the GNPTAB gene 174A>C resulting in a substitution of glutamine for lysine at codon 4 Lys4Gln (K4Q) .

text: GNPTAB

text: Homo sapiens

text: Caucasian

text: Female

text: GNPTAB

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

text: Mucolipidosis iiia

text: GM00113 female affected Mucolipidosis iiia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 82 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Mother of one affected child (ND00136) and three unaffected children (ND00373;ND00374;and ND00375);spouse of ND00135;grandmother of ND00371 and ND00372.

characteristic: family id

text: mother

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: ND00137 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 29 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Uterine tissue fibroblast culture;phenotypically normal

text: DANISH

characteristic: ethnicity

text: 46;XX;der(15)(15qter>15p1:: Yq11>Yqter)pat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

text: GM00118 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. ND00138: Unaffected spouse of ND00139 (GM15844);unaffected daughters are ND00144 and ND00145. Additional Family members included in the NINDS Repository: ND00062;ND001

characteristic: description

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND00138 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 31 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: 46;XX;t(17;22)(17qter>17p13::22q11> 22qter;22pter>22q11::17p13>17pter)

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM00119 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 49 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00138;unaffected daughters are ND00144 and ND00145. Additional Family members included in the NINDS Repository: ND00062;ND00195;ND00196;ND00502. same sample as ND34391 (iPSC);ND27760 (fibroblast);GM15844

characteristic: family id

text: proband

text: TRIPLICATION

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Dementia with lewy bodies

text: Parkinson disease

text: Parkinson disease familial type 1

text: Synuclein alpha

text: SNCA

text: ND00139 female affected PARK1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 30 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: G6PD-A;PGK-1/G6PD-B;PGK-2;the majority of cells in culture express the genes for G6PD-B and PGK-2;46;XX;18% of cells show random chromosome loss/gain at passage 11

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Glucose-6-phosphate dehydrogenase

text: GM00120 female unaffected Glucose-6-phosphate dehydrogenase sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. ND00140: affected sister is ND00146;unaffected sister is ND00157.

characteristic: description

text: brother

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND00140 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Mucopolysaccharidosis type vii

text: 3 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 2% of normal B-glucuronidase;normal A-galactosidase;acid B-galactosidase;and A-mannosidase;46;XY;donor subject is a compound heterozygote with two mutations in the GUSB gene;a G>T transversion Trp627Cys (W627C) in exon 12 and an Arg356Ter (R356X) mutation;a C>T transition that introduces a termination codon in exon 7

text: proband

text: GUSB

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Male

text: Mucopolysaccharidosis type vii

text: GM00121 male affected Mucopolysaccharidosis type vii sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 30 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Wife of affected spouse;ND00143

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND00141 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 33 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal

text: 46;XY;t(1;15)(1qter>1p36.1::15q11.2> 15qter;15pter>15q11.2::1p36.1>1pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM00126 male unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. ND00142: unaffected spouse of ND00042

characteristic: description

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND00142 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 25 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;negative for T cell 65;000 MW glycoprotein;positive for sIg and Ia (B cell) antigen;4% of cells show random chromosome loss/gain;donor subject has a deletion of T at 375-36 in intron 23 of the CFTR gene (4375-36delT) and is also homozygous for the CFTR polymorphism: Met>Val at amino acid 470 Met470Val (M470V);A>G at nucleotide 1540 in exon 10;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T

text: proband

text: CFTR

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM00130 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 30 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND00141

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

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

text: PD

text: Parkinson disease

text: ND00143 male affected Young onset parkinsons panel: affected individuals sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 23 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX;2% of cells show random loss of 1 chromosome. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (99%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597).

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM00131 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter of ND00139 (GM15844) and ND00138;unaffected sister is ND00145. Another lymphoblastoid culture from the same individual is ND00503. Additional Family

characteristic: description

text: daughter

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND00144 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 22 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Heterozygote levels of arylsulfatase A;clinically unaffected;cousin has adult type MLD

text: first cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Metachromatic leukodystrophy

characteristic: tag

text: GM00132 male unaffected Metachromatic leukodystrophy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 26 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. ND00145: Unaffected daughter of ND00139 (GM15844) and ND00138;unaffected sister is ND00144. Additional Family members included in the NINDS Repository: ND00062;ND00195

characteristic: family id

text: daughter

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND00145 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Sister of GM00318;HPRT+;G6PDB / HPRT-;G6PDA;46;XX;mother of an HPRT deficient child;proband not in Repository;3 affected nephews

text: parent

text: Homo sapiens

text: Black

text: Female

text: LNS

text: Lesch-nyhan syndrome

text: GM00135 female unaffected Lesch-nyhan syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 54 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. ND00146: unaffected brother is ND00140;unaffected sister is ND00157.

characteristic: description

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND00146 female affected Parkinson disease sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 60% of normal superoxide dismutase-1 activity;multiple malformations & severe psychomotor retardation;70% of normal SOD-1 RNA in fibroblasts;gene dosage studies suggest a translocation rather than a monosomy for chromosome #21

text: proband

text: 45;XY;-21;45;XY;-21;4p+;45;XY;der(4)t(4;21)(4qter>4p16::21q21>21qter);-21

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM00137 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: PD

text: 82 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Late onset parkinsons dna panel: affected individuals

characteristic: tag

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00148 female affected PD sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Mucopolysaccharidosis type ii

text: 5 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Excessive mucopolysaccharide accumulation correctable by Hunter factor

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: Mucopolysaccharidosis type ii

text: GM00140 male affected Mucopolysaccharidosis type ii sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 80 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND00148

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND00150 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: CF

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (Phe508DEL) and a second allele carries a G-to-A transition at nucleotide 1784 (G1784A) which converts the gly-551 codon (GGT) to an asp (GAT);resulting in a missense mutation in exon11 in the CFTR gene Gly551Asp (G551D)

text: CFTR

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM00142 male affected CF sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00150

text: cousin-in-law

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND00151 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 3 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Died at age 3 months

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 18

text: GM00143 female unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: description

text: second cousin

text: WILDTYPE for GLY2019

text: Homo sapiens

text: African American

text: Male

text: ND00156 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Translocated chromosome

text: 34 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 13% of cells found to be balanced in passage 1 after recovery;these tend to increase with passage in culture;clinical features of Down syndrome;3 male sibs have balanced translocations

text: 45;XX;der(6)(6qter>6p25:: 21q11>21qter)mat;-21 26 /46;XX;der(6)(6qter>6p25::21q11>21qter)mat 24;45;XX;der(6)(6qter>6p25::21q11>21qter);-21 30 /46;XX;der(6)(6qter>6p25::21q11>21qter) 14 /46;XX;der(6)(6qter>6p25::21q11>21qter);der(21)(21pter>q22.3::7q22.3>7qter) 3 /46;XX;der(6)(6qter>6p25::21q11>21qter);add(21)(pter>q22.3:?) 3;45;XX;der(6)t(6;21)(6qter>6p25::21q11>21qter)mat;-21 26 /46;XX;der(6)t(6;21) (6qter>6p25::21q11>21qter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Trisomy 21

text: Translocated chromosome

text: GM00144 female affected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: ND00157 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;reduced galactose-1-phosphate uridyl transferase;donor subject is heterozygous for a G>T transition at nucleotide 855 in exon 9 of the GALT gene (c.855G>T) resulting in the substitution of asparagine for lysine at codon 285 Lys285Asn(K285N)

text: father

text: GALT

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GALT

characteristic: tag

text: Galactosemia

text: GM00149 male unaffected Galactose-1-phosphate uridylyltransferase sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 52 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND00167

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND00166 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Mucopolysaccharidosis type vii

text: 4 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Less than 5% of normal beta-glucuronidase activity;similarly affected sister

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Mucopolysaccharidosis type vii

text: GM00151 male affected Mucopolysaccharidosis type vii sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND00167 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Lesch-nyhan syndrome

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibroblasts nonviable in HAT medium

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: LNS

text: Lesch-nyhan syndrome

text: GM00152 male affected Lesch-nyhan syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 38 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Affected mother is ND00171;unaffected sister is ND00172;unaffected maternal uncle is ND00274 (affected spouse of ND00274 is ND00275).

text: daughter

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND00169 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type iiib

text: 7 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: No detectable N-acetyl-alpha-D glucosaminidase activity;46;XY;homozygous for a C>T transition at nucleotide 1876 (1876C>T) of the NAGLU gene resulting in a substitution of a termination codon at position 626 for Arg Arg626ter (R626X)

text: NAGLU

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: NAGLU

text: Mucopolysaccharidosis type iiib

text: N-acetylglucosaminidase, alpha-

text: GM00156 male affected Mucopolysaccharidosis type iiib sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Restless leg syndrome

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughters are ND00169 and ND00172;unaffected brother is ND00274;affected sister-in-law is ND00275

characteristic: description

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinsons panel: caucasian from the united states

text: PD

text: Restless leg syndrome

text: Parkinson disease

text: ND00171 female affected Restless leg syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Severe mental retardation;sexual infantilism

text: 49;XXXXY;t(4;11)(4pter>4q35::11q23> 11qter;11pter>11q23::4q35>4qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: Xxxy and xxxxy syndrome

text: GM00157 male unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Affected mother is ND00171;unaffected sister is ND00169;unaffected maternal uncle is ND00274 (affected spouse of ND00274 is ND00275).

characteristic: family id

text: daughter

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: ND00172 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Lesch-nyhan syndrome

text: 10 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: G6PD type A;HPRT deficient;son of GM00318;2 affected brothers and 1 affected maternal cousin

text: maternal cousin

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: LNS

characteristic: tag

text: Lesch-nyhan syndrome

text: GM00159 male affected Lesch-nyhan syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 78 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected daughter is ND00174

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: PD

text: Parkinson disease

text: ND00173 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Niemann-pick disease: type unspecified

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically atypical;27% of normal sphingomyelinase activity;tested and negative for the three most common mutations in SMPD1;i.e.;R496L (607608.0001);L302P (607608.0010);and P330fsX382 (607608.0011).

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Niemann-pick disease: type unspecified

text: GM00165 male affected Niemann-pick disease: type unspecified sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected mother is ND00173

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND00174 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 44% of cells have r(9);56% are 45;XY;-9;trigonocephaly;hypertelorism;systolic murmur;and multiple facial malformations

text: proband

text: 45;XY;-9 28 /46;XY;r(9) 22

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Ring chromosome

text: GM00166 male unaffected Ring chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND00125

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND00181 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 19 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;Finnish;poor growing culture;in 20 metaphases;late replication studies showed 15 normal X chromosomes and 5 abnormal X chromosomes as late replicating;same patient as GM02899

text: proband

text: 46;X;t(X;3)(Xpter>Xq28::3q21>3qter;3pter>3q21::Xq28>Xqter);46;X;t(X;3)(Xpter>Xq28::3q21>3qter;3pter>3q21::Xq28>Xqter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM00194 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND00184

characteristic: description

text: SOUTH WEST NETHERLANDS

characteristic: ethnicity

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00183 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 33 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;3 children affected with infantile MLD;heterozygous level of arylsulfatase A in fibroblasts;clinically unaffected father of GM00197 and GM00200

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Metachromatic leukodystrophy

text: GM00196 male unaffected Metachromatic leukodystrophy sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND00183

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND00184 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Metachromatic leukodystrophy

text: 4 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Infantile type;deficient arysulfatase A;2 similarly affected sibs

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Metachromatic leukodystrophy

text: GM00197 male affected Metachromatic leukodystrophy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Family history includes an affected mother and brother (ND00429);unaffected sister is ND00232;unaffected spouse is ND00188

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

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: ND00187 female affected Young onset parkinsons panel: affected individuals sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;carrier level of arylsulfatase A;clinically unaffected;3 sibs have infantile MLD

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Metachromatic leukodystrophy

text: GM00200 male unaffected Metachromatic leukodystrophy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected spouse not in catalog

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND00188 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Translocated chromosome

text: 13 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinical features of Down syndrome

text: proband

text: 47;XX;t(1;17)(1qter>1p34::17p13> 17pter;17qter>17p13::1p34>1pter);+21;47;XX;t(l;17)(1qter>1p34::17p13> 17pter;17qter>17p13::1p34>1pter);+21

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Trisomy 21

text: Translocated chromosome

text: GM00201 female affected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND00191

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND00190 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Sandhoff disease

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient hexosaminidase A and B;46;XY;< 1% of normal fibroblast pre B-chain mRNA;Hex B gene shows no gross abnormalities

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Sandhoff disease

characteristic: tag

text: GM00203 male affected Sandhoff disease sample


text: Coriell

text: live

text: Generic

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND00190

characteristic: description

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: ND00191 female unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 18 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;clinically unaffected mother of GM00203A

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Sandhoff disease

text: GM00204 female unaffected Sandhoff disease sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 71 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND00194

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND00193 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Responsive to B12;cobalamin A mutation

text: Homo sapiens

text: Caucasian

text: Male

text: GM00212 male affected Methylmalonicaciduria, vitamin b12-responsive due to defect in synthesis of adenosylcobalamin--cbl a sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND00193

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

characteristic: tag

text: PD

text: Parkinson disease

text: ND00194 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 35 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;son has clinical features resembling Down syndrome

text: 46;XY;t(8;12)(8qter>8p23::12p11>12pter;12qter>12p11::8p23>8pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Translocated chromosome

text: GM00213 male unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 38 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter of ND00062;sister of ND00196;mother was affected. Additional family members included in the NINDS Repository: ND00139 (GM15844);ND00138;ND00144;N

text: maternal first cousin

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: ND00195 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 2 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Growth hormone deficiency and hypothyroidism

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM00214 male unaffected Chromosome deletion sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Synuclein alpha

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Affected son of ND00062;brother of ND00195;mother was affected. Additional family members included in the NINDS Repository: ND00139 (GM15844);ND00138;ND00144;ND00145

characteristic: family id

text: maternal first cousin

text: TRIPLICATION

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: Parkinson disease familial type 1

text: Synuclein alpha

text: SNCA

text: ND00196 male affected Synuclein alpha sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 29 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;balanced carrier;son with the unbalanced translocation is not in the Repository;a relative with the same unbalanced translocation is GM00959

characteristic: description

text: father

text: 46;XY;t(10;17)(10pter>10q24::17p13> 17pter;17qter>17p13::10q24>10qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

characteristic: tag

text: GM00216 male unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 75 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected half-brother is ND00198

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND00197 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Menkes syndrome

text: 2 MO

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Fibroblasts exhibit elevated Cu levels;positive family history;similarly affected brother and cousin;abnormal metallothionein gene regulation in response to copper;culture shows qualitative changes in Mc1 mRNA

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Menkes syndrome

text: GM00220 male affected Menkes syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Affected half-brother of ND00197

text: half-brother

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00198 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: TSD

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Deficient hexosaminidase A;donor subject is homozygous for a 4 bp insertion at nucleotide 1278 in exon 11 of the HEXA gene (c.1278insTATC)

text: HEXA

text: 4-BP INS

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tay-sachs disease

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM00221 male affected TSD sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Father of unaffected son (ND00202)

characteristic: description

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: PD

text: Parkinson disease

text: ND00201 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Zellweger syndrome

text: 2 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;increased C26:O and C26:1 long-chain fatty acids and C26:C22 fatty acid ratio in fibroblasts;fibroblasts show a defect in plasmalogen biosynthesis;fibroblasts contain peroxisomal ghosts;46;XY

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Zellweger syndrome

text: ZS

text: GM00228 male affected Zellweger syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected son of ND00201

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND00202 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Chondrodystrophy

text: 9 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother is also affected;46;XY

text: Homo sapiens

text: Caucasian

text: Male

text: Chondrodystrophy

text: GM00229 male affected Chondrodystrophy sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND00221 and ND00222;sister of ND00218;ND00219;ND00220;paternal aunts are ND00223 (affected) and ND00224 (unaffected);paternal cousin is ND00226;additional family member is ND00225 (unaffected spouse of ND00223).

characteristic: description

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: At risk

text: ND00217 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 1 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 60% of norm superoxide dismutase-1;responds less than normal diploid fibroblast to B adrenergic stimulation;12% cells show random chromosome loss;mental and physical retardation;cardiac anomalies;antimongoloid slant;low set ears;micrognathia

text: 45;XX;-21;45;XX;-21;t(21;?) {? is most likely the X chromosome}

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM00230 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND00221 and ND00222;sister of ND00217;ND00219;ND00220;paternal aunts are ND00223 (affected) and ND00224 (unaffected);paternal cousin is ND00226;additional family member is ND00225 (unaffected spouse of ND00223).

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND00218 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Spinal muscular atrophy i

text: 7 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Progressive muscular atrophy;abnormal EMG;absent deep tendon reflexes;donor subject has only one copy of the SMN2 gene

text: Homo sapiens

text: Caucasian

text: Male

text: Spinal muscular atrophy i

text: GM00232 male affected Spinal muscular atrophy i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND00221 and ND00222;sister of ND00217;ND00218;ND00220;paternal aunts are ND00223 (affected) and ND00224 (unaffected);paternal cousin is ND00226;additional family member is ND00225 (unaffected spouse of ND00223).

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND00219 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Citrullinemia

text: 31 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: HLA type (Aw31;33)A9;Bw15;B12;deficient Argininosuccinate synthetase;46;XY;line UM-21

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Citrullinemia

text: Classic

text: GM00235 male affected Citrullinemia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected daughter of ND00221 and ND00222;sister of ND00217;ND00218;ND00219;paternal aunts are ND00223 (affected) and ND00224 (unaffected);paternal cousin is ND00226;additional family member is ND00225 (unaffected spouse of ND00223).

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND00220 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of GM00082

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: XPA

text: GM00241 female unaffected Xeroderma pigmentosum, complementation group a sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Father of ND00217;ND00218;ND00219 and ND00220;unaffected spouse is ND00222;affected sister is ND00223;unaffected sister is ND00224;niece is ND00226;additional family member is ND00225 (unaffected spouse of ND00223).

characteristic: description

text: IRISH/CANADIAN INDIAN

characteristic: ethnicity

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND00221 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 1 WK

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal branched-chain keto-acid decarboxylase activity;46;XX;6% of cells show random chromosome loss;parents are GM00016 and GM00022

text: sibling

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Maple syrup urine disease (msud) type ia

characteristic: tag

text: Apparently healthy non-fetal tissue

text: GM00242 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 66 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Affected sister of ND00221;unaffected daughter is ND00226;unaffected spouse is ND00225;unaffected sister is ND00224. Additional family members include ND00217;ND00218;ND00219;ND00220;and ND00222.

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND00223 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Metachromatic leukodystrophy

text: 3 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Infantile type;deficient arylsulfatase A

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Metachromatic leukodystrophy

text: GM00243 male affected Metachromatic leukodystrophy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister of ND00221 (affected brother);affected sister is ND00223. Additional family members include ND00217;ND00218;ND00219;ND00220;ND00222;ND00225;and ND00226.

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Essential tremor-movement disorder

text: ND00224 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Glucosidase acid alpha

text: 5 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Infantile onset;Mexican;normal size and amount of mRNA for GAA;GAA protein detected by antibody;but deficient acid alpha-1;4 glucosidase activity (0.16%);46;XX;donor subject is a compound heterozygote: allele one carries a C>T transition at nucleotide 2560 in exon 18 of the GAA gene (2560C>T) which results in a nonsense codon at amino acid 854 Arg854Ter (R854X);allele two carries a missense mutation caused by a T>C transition at nucleotide 953 (953T>C) in exon 5 which results in the substitution of threonine for methionine at codon 318 Met318Thr (M318T)

text: MEXICAN

characteristic: ethnicity

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM00244 female affected Glucosidase acid alpha sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND00223;father of ND00226. Additional family members include ND00217;ND00218;ND00219;ND00220;ND00221;ND00222;and ND00224.

text: brother-in-law

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND00225 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Menkes syndrome

text: 1 MO

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Fibroblasts exhibit elevated Cu levels;46;XY;abnormal metallothionein gene regulation in response to copper

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Menkes syndrome

text: GM00245 male affected Menkes syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 47 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter of ND00223 and ND00225;unaffected maternal aunt is ND00224;affected maternal uncle is ND00221;maternal cousins are ND00217;ND00218;ND00219;and ND00220. Additional family member is ND00222 (unaffected spouse of ND00221).

characteristic: description

text: niece

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: ND00226 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Glucosidase acid alpha

text: 5 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Infantile onset;deficient acid-alpha-1;4 glucosidase (0.27%);no detectable levels of GAA mRNA or protein;passage 3 at CCR;donor subject is homozygous for a C>T transition at nucleotide 2560 in exon 18 of the GAA gene (2560C>T) which results in a nonsense codon at amino acid 854 Arg854Ter (R854X)

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM00248 male affected Glucosidase acid alpha sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Family history includes an affected mother;sister;brother (ND00429);unaffected spouse is ND00233.

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND00232 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 10 FW

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 76% interphase nuclei have 2 sex chromosome bodies;15% have one;no evidence for mosaicism

text: 47;XXX;47;XXX 48 /46;XX 2

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Aneuploid chromosome number - trisomy

characteristic: tag

text: GM00254 female unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 84 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND00232

characteristic: description

text: brother-in-law

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND00233 male unaffected Population/convenience control sample