text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Gaucher disease type ii

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hepatosplenomegaly;strabismus;trismus;expired at age 1;4% of cont fibroblast glucocerebrosidase activity;donor subject is homozygous for a T>C transition at nucleotide 1448 (1448T>C) in exon 10 of the GBA gene resulting in a substitution at codon 444;Pro for Leu Leu444Pro (L444P);1 allele has 2 additional base substitutions: 1483G>C and 1497G>C codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

text: proband

text: GBA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: GBA

text: Glucosidase acid beta

text: Gaucher disease type ii

text: GM00877 male affected Gaucher disease type ii sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 23 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: ND01104 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Carrier level of fibroblast glucosylceramide B-glucosidase activity;clinically unaffected mother of GM00877;donor subject has a T>C transition at nucleotide 1448 in exon 10 of the GBA gene (1448T>C) resulting in a substitution of proline for leucine at codon 444 Leu444Pro (L444P);there are two additional base substitutions: 1483G>C and 1497G>C codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

characteristic: description

text: mother

text: GBA

text: Homo sapiens

text: Caucasian

text: Female

text: GBA

text: Glucosidase acid beta

text: Gaucher disease type ii

text: GM00878 female unaffected Gaucher disease type ii sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01105 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Mucopolysaccharidosis type iiia

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient heparan sulfate sulfatase;donor subject is a compound heterozygote;one allele carries a missense mutation (G>A) at nucleotide 1351 (1351G>A) in the SGSH gene Glu447Lys (E447K);the other carries a G>A transition at nucleotide 746(746G>A) Arg245His ( R245H)

text: proband

text: SGSH

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Mucopolysaccharidosis type iiia

text: N-sulfoglucosamine sulfohydrolase

text: SGSH

text: GM00879 female affected Mucopolysaccharidosis type iiia sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 36 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND02837;unaffected father is ND02838

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: Epilepsy, focal: caucasian

text: ND01117 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Hyperglycinemia

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Spastic paraparesis;2 affected sibs

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Hyperglycinemia

characteristic: tag

text: Isolated nonketotic type i

text: GM00880 male affected Hyperglycinemia sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND01123 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Fabry disease

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: No detectable alpha-galactosidase activity;conjuctiva showed lipid deposits in the endothelial cells of the vessel walls;classic phenotype;donor subject is hemizygous for a C>T change at nucleotide 658 in exon 5 of the GLA gene (c.658C>T) resulting in a stop codon Arg220Ter (R220X)

characteristic: description

text: GLA

text: Homo sapiens

text: Caucasian

text: Male

text: Galactosidase, alpha

text: Fabry disease

text: GLA

text: GM00881 male affected Fabry disease sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 77 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND01124 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: Fabry disease

text: 40 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Italian;history of proteinuria and mild fatigability;13 to 30% of normal alpha galactosidase activity;cardiac variant;donor subject is hemizygous for a C>G transversion at nucleotide 901 in exon 6 of the GLA gene (901C>G) resulting in the substitution of glycine for arginine at codon 301 Arg301Gly (R301G)

text: GLA

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Galactosidase, alpha

text: Fabry disease

text: GLA

text: GM00882 male affected Fabry disease sample


text: Coriell

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: ND01125 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Three affected children;clinically unaffected mother of GM00751;00752;and 00885

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Homocystinuria

text: GM00883 female unaffected Homocystinuria sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND01126 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Homocystinuria

text: 17 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Def cystathionine synthetase activity;2 similarly affected brothers

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Homocystinuria

text: GM00885 male affected Homocystinuria sample


text: Coriell

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial rupture-status undefined

text: ND01127 female affected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Mucopolysaccharidosis type iiia

text: GM00886 female unaffected Mucopolysaccharidosis type iiia sample


text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND01128 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Hurler syndrome

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: No detectable Alpha-L-Iduronidase activity;Hurler syndrome

text: Homo sapiens

text: Caucasian

text: Female

text: Hurler syndrome

text: GM00887 female affected Hurler syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughters are ND01138 and ND01139

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: African American

text: Female

text: PD

text: Parkinson disease

text: ND01137 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A2(A9);B12;B18;45;XX;-12;-18;+der(12);t(12;18)(12qter>12p11::18q11> 18qter)/47;XX;+12;78%/22%

text: 45;XX;der(12)(12qter>12p11::18q11>18qter);-18 39 /47;XX;+12 11;47;XX;+12/45;XX;der(12)t(12;18)(12qter> 12p11::18q11>18qter);-18;47;XX;+12 37 /46;XX;der(12)t(12;18)(12qter>12p11::18q11>18qter);-18 13;47;XX;+12 39 /45;XX;der(12);t(12;18)(12qter> 12p11::18q11>18qter);-18 11

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Derivative chromosome

text: Translocated chromosome

text: GM00892 female unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

text: Generic

text: 38 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Affected mother is ND01137;unaffected sister is ND01139

characteristic: description

text: daughter

text: Homo sapiens

text: African American

text: Female

text: ND01138 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Same patient as GM00894;46;XX;24% of cells show random chromosome loss of 1 chromosome and 4% show random gain of 1 chromosome

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM00893 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected mother is ND01137;unaffected sister is ND01138

text: daughter

text: Homo sapiens

text: African American

text: Female

text: ND01139 female 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

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: CF

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mild;no pancreatic insufficiency;first diagnosed at age 4 months;a sib died of cystic fibrosis at age 10;see GM00768 Fibroblast;donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (Phe508DEL) and a second allele carries a C-to-G substitution at nucleotide 1172 (1172C>G) which converts the arg-347 codon (CGC) to a pro (CCC);resulting in a missense mutation in exon 7 in the CFTR gene Arg347Pro (R347P)

text: proband

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM00897 male affected CF sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 47 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20013 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Metachromatic leukodystrophy

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Infantile type;deficient arylsulfatase A

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Metachromatic leukodystrophy

text: GM00905 female affected Metachromatic leukodystrophy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

characteristic: tag

text: Parkinson disease

text: ND20014 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Two affected children;heterozygote level of 1/2 cystine in white cells;clinically unaffected father of GM00378 and 00379

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Cystinosis

text: Late-onset juvenile or adolescent nephropathic type

text: GM00906 male unaffected Cystinosis sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20022 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 30 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Two affected children;heterozygote level of 1/2 cystine in white cells;clinically unaffected mother of GM00378 and 00379

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Cystinosis

text: GM00907 female unaffected Cystinosis sample


text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20047 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Cystinosis, nephropathic

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Nephropathic cystinosis;fibroblasts show increased levels of intracellular cystine;patient has received a kidney transplant

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Cystinosis, nephropathic

text: CTNS

text: GM00908 male affected Cystinosis, nephropathic sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND20048 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of GM00908

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Cystinosis, nephropathic

text: CTNS

text: GM00909 female unaffected Cystinosis, nephropathic sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

characteristic: tag

text: Parkinson disease

text: ND20049 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 49 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected father of GM00908

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Cystinosis, nephropathic

text: CTNS

text: GM00910 male unaffected Cystinosis, nephropathic sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND20051 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 3 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient hepatic methionine adenosyltransferase activity;normal activity in fibroblasts

text: Homo sapiens

text: Caucasian

text: Male

text: GM00911 male affected Methionine adenosyltransferase deficiency sample


text: Coriell

text: live

text: Generic

text: 87 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: control family

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND20054 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: Retinoblastoma

text: 2 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Unilateral;conjunctiva fibroblast culture;46;XY;9qh+;same patient as GM00913

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Sporadic

text: Retinoblastoma

text: GM00914 male affected Retinoblastoma sample


text: Coriell

text: live

text: Generic

text: 91 YR

text: B-Lymphocyte

text: NINDS Repository

text: control family

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND20055 male unaffected Control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX/92;XXXX;33%/67%;same patient as GM00924

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM00922 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinsonism, other

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Progressive supranuclear palsy

text: Parkinsonism, other

text: ND20069 male affected Parkinsonism, other sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Methylmalonyl CoA mutase defect;unresponsive to B12;passage 3 at CCR

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM00930 female affected Methylmalonicaciduria due to methylmalonic coa mutase deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 56 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND20070 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Hydroxymethylbilane synthase

text: 32 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Active AIP;deficient URO synthetase;positive family history;donor subject is heterozygous for a C>T transition at nucleotide 76 in exon 3 of the HMBS gene (76C>T) resulting in the substitution of cysteine for arginine at codon 26 Arg26Cys (R26C)

text: proband

text: HMBS

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Hydroxymethylbilane synthase

text: HMBS

text: Porphyria, acute intermittent

text: GM00931 female affected Hydroxymethylbilane synthase sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: control family

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND20074 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Latent carrier;deficient URO synthetase

characteristic: description

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Porphyria

text: Acute intermittent

text: GM00932 male unaffected Porphyria sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND20075 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 1 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Latent carrier;deficient URO synthetase

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Porphyria

text: Acute intermittent

text: GM00933 female unaffected Porphyria sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Ash Jewish

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND20076 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Mucopolysaccharidosis type iiia

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient heparan sulfate sulfatase

text: Homo sapiens

text: Caucasian

text: Female

text: Mucopolysaccharidosis type iiia

text: GM00934 female affected Mucopolysaccharidosis type iiia sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND20078 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Heterozygote level of Arylsulfatase B;clinically unaffected mother of GM00519;00942;and 00943

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Mucopolysaccharidosis type vi

text: GM00935 female unaffected Mucopolysaccharidosis type vi sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 91 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Male

text: Progressive supranuclear palsy

text: Parkinson disease

text: ND20079 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 22 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Umbilical cord fibroblast culture;low in post UV unscheduled DNA synthesis

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: XPD

text: GM00936 female affected Xeroderma pigmentosum, complementation group d sample


text: Coriell

text: live

text: Generic

text: 78 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: African American

text: Female

text: Control

text: Population/convenience control

text: Ninds african american population control plate

text: ND20080 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: Phenylketonuria

text: 2 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;normal level of dihydropteridine reductase in skin fibroblasts;donor subject is a compound heterozygote: one allele has a C>G transversion at nucleotide 117 in exon 2 of the PAH gene 117C>G resulting in a substitution of leucine for phenylalanine at codon 39 Phe39Leu (F39L) and a second allele has a splice site mutation at nucleotide 1066 IVS10-11G>A .

text: PAH

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Phenylketonuria

text: GM00937 male affected Phenylketonuria sample

characteristic: title


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

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20084 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Hydroxymethylbilane synthase

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM02135 Lymphoid;active AIP;deficient URO synthetase;positive family history;donor subject is heterozygous for a C>T transition at nucleotide 583 in exon 10 of the HMBS gene (583C>T) resulting in the substitution of cysteine for arginine at codon 195 Arg195Cys (R195C)

characteristic: family id

text: proband

text: HMBS

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Hydroxymethylbilane synthase

text: HMBS

text: Porphyria, acute intermittent

text: GM00939 female affected Hydroxymethylbilane synthase sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND20085 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 61 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM02134 Lymphoid;clinically normal;no URO synthetase deficiency

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

characteristic: tag

text: Porphyria, acute intermittent

text: GM00940 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND20088 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 63 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Latent carrier;see GM02133 Lymphoid;deficient URO synthetase

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Porphyria

text: Acute intermittent

text: GM00941 male unaffected Porphyria sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: ND20089 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal level of Arylsulfatase B;46;XX. Sister of individual affected with Mucopolysaccaridosis Type VI

text: sister

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Mucopolysaccharidosis type vi

text: Apparently healthy non-fetal tissue

text: GM00942 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: niece

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND20090 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Heterozygote level of Arylsulfatase B

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Mucopolysaccharidosis type vi

text: GM00943 female unaffected Mucopolysaccharidosis type vi sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother-in-law

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND20091 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 2 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Failure to thrive;severe retardation;heterozygous BA phenotype at ACP-1 locus;Cantonese

characteristic: description

text: 46;XX;del(2)(pter>p25.1::p23.1>qter);46;XX;del(2)(qter>p23.1::p25.1>pter);arr 2p25.2p24.2(4392204-18964493)x1

text: Homo sapiens

text: Asian

text: Female

text: Chromosome deletion

characteristic: tag

text: GM00945 female unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 32 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20094 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX;4% of cells show random chromosome loss. 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).

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM00946 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20095 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Isovalericacidemia

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;fibroblasts are deficient in ability to decarboxylate leucine

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: IVA

text: Isovalericacidemia

text: GM00947 male affected Isovalericacidemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND20096 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Papular mucinosis

text: 60 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-lesioned gingiva;same patient as GM00950 and GM00951

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Papular mucinosis

text: Genetic or acquired

text: GM00948 male affected Papular mucinosis sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND20097 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Papular mucinosis

text: 60 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Non-lesioned leg skin

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Papular mucinosis

text: Genetic or acquired

text: GM00950 male affected Papular mucinosis sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND20098 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: Papular mucinosis

text: 60 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Lesioned leg skin;same patient as GM00948

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Papular mucinosis

text: Genetic or acquired

text: GM00951 male affected Papular mucinosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Progressive supranuclear palsy

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Progressive supranuclear palsy

text: ND20100 female affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Argininemia

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mexican-American;RBC Arginase deficiency;see GM02011A Lymphoid

text: LATIN AMERICAN

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Argininemia

text: GM00954 female affected Argininemia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 71 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND20103 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Mucopolysaccharidosis type iva

text: 12 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically atypical;3% of normal N-acetylgalactosamine 6-sulfate sulfatase activity;normal B-galactosidase and B-glucuronidase activity

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type iva

characteristic: tag

text: GM00958 male affected Mucopolysaccharidosis type iva sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND20106 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 86 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND20119 male unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Ichthyosis

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Transformant produced by transfecting GM03030 with DNA from the pSV3-neo plasmid carrying a dominant selection marker;selectable with the antibiotic G418 an aminoglycoside;100% cells with chromo abnormalities;T-antigen positive

characteristic: description

text: SARDINIAN

text: proband

text: Unstable karyotype;near tetraploid;100% cells show abnormalities;chromosomes per cell varies from 48 to 88

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: X-linked

text: Ichthyosis

text: GM09852 male affected Ichthyosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 97 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND20120 female unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Nosebleeds since age 10-12;spots on lips & fingers;telangiectasias on lips;tongue;palate & fingers;mother;daughters & maternal grandmother are affected

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: HHT

text: GM09853 female affected Telangiectasia, hereditary hemorrhagic of rendu, osler and weber sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND20128 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Telangiectasias on lips;ears;& skin

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: HHT

characteristic: tag

text: GM09864 female affected Telangiectasia, hereditary hemorrhagic of rendu, osler and weber sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: twin sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND20129 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Ecuadorian;blistering on fingers & mouth at birth;generalized blisters at age 2;partially webbed digits & toes;sm for age;diminished motor strength;probably recessive dystrophic HallopeauSiemens type;see GM09870 Lymphoid

characteristic: description

text: ECUADORIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM09865 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND20130 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 package

text: 10 MO

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Develop delay;feeding difficulties;inc tone;prom nasal bridge;lrg nose/blunt tip;downslanting eyes;low-set;posteriorly rotated ears;incr facial hair;pectus deformity of chest;slight kyphosis;brisk DTRS & occasional clonus

text: proband

text: 46;XX;rec(21)(pter> p13::q22.1>pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Inverted chromosome

text: GM09868 female unaffected Copy number variation (cnv) refernece panel 02 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND20131 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Spouse of GM09867 {46;XX;inv(21)};father of GM09868 {46;XX;rec(21)};46;XY;6% of cells show random chromosome loss

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM09869 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND20132 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ecuadorian;blistering on fingers & mouth at birth;generalized blisters at age 2;partially webbed digits & toes;small for age;decreased motor strength;probably recessive dystrophic HallopeauSiemens type;see GM09865 Fibroblast

characteristic: description

text: ECUADORIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM09870 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 29 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND20133 female 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: 22 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ecuadorian;clinically unaffected;1 affected son

text: ECUADORIAN

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM09871 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tourette syndrome

text: ND20134 female affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Blisters from age 3 days;multiple wound infections;severe scarring;adhesion & loss of digits;alopecia;tooth loss;ocular problems;delayed puberty;esophageal replace;prob recessive dystrophic Hallopeau-Siemens type;sim aff sis

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM09884 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Pacific Islander

text: Female

text: ND20135 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Sialic acid storage disease

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Respiratory probs from birth;puffy eyelids;broad nasal bridge;long philtrum;sparse;pale hair;severe develop delay;poor head control;fibro lysosomal enzymes including neuraminidase are nor or elev;stores & excretes free sialic acid

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: SIASD

text: Sialic acid storage disease

text: GM09885 female affected Sialic acid storage disease sample


text: Coriell

text: live

text: Generic

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND20136 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 74 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;father & 2 sibs are affected

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM09886 female unaffected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND20155 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;mother and 5 sibs are affected;mother of GM09620

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Neurofibromatosis type i

text: GM09887 female unaffected Neurofibromatosis type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 85 YR

text: B-Lymphocyte

text: NINDS Repository

text: English;German

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND20160 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Trps2 (langer-giedion syndrome

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Facial asymmetry;multiple exostoses;sparse hair;speech problems;weight;height;and head circumference below the 3rd %ile;46;XX;del(8)(pter>q23::q24.13>qter)

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: LGS)

text: Copy number variation (cnv) reference panel

text: Trichorhinophalangeal syndrome type ii

text: Trps2 (langer-giedion syndrome

text: Chromosome deletion

text: GM09888 female affected Trps2 (langer-giedion syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 78 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND20161 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 24 FW

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Caucasian/American Indian;renal agenesis;single umbilical artery

text: CAUCASIAN/AMERICAN INDIAN

text: 46;XY;del(2)(pter->q33::q35->qter).arr 2q33.1q35(202877468-215313389)x1;46;XY;del(2)(pter>q33::q35>qter)

text: Homo sapiens

text: Other

text: Male

text: Chromosome deletion

text: GM09892 male unaffected Chromosome deletion sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 84 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ash Jewish

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND20162 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Hemochromatosis

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Aff bro expired at age 6 da;sm for gest age;microcephaly;expired at age 2 da with anuria & fulminant hepatic failure;sm bowel perf;peritonitis;hemorrhage of lungs;& sm discolored liver;heavy iron staining of hepatocytes & pancreas

text: JEWISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Neonatal

characteristic: tag

text: Hemochromatosis

text: GM09893 female affected Hemochromatosis sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20169 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Hemochromatosis

text: 6 WK

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hispanic;expired at age 6 wks;hepatic failure;hypoammonemic encephalopathy & direct hyperbilirubinemia;seizure disorder;chronic thrombocytopenia;gastroesophageal reflux with patulous esophagus;HLA type: A1;B27/A1;B35

characteristic: description

text: PORTUGUESE

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Neonatal

text: Hemochromatosis

text: GM09894 male affected Hemochromatosis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: PD

text: Parkinson disease

text: ND20170 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: A son has a r(17) and many features of neurofibromatosis;proband is not in Repository

text: parent

text: 45;X 3 /46;XX 47;46;XX

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM09899 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 62 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ash Jewish

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND20174 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Two affected children

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM09901 female unaffected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Ash Jewish

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND20175 male 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

text: 85 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected grandchildren are GM09296 and GM09297.

characteristic: description

text: ASHKENAZI

text: maternal grandfather

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM09909 male unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20189 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 78 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: ASHKENAZI

characteristic: ethnicity

characteristic: family id

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM09910 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20190 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected spouse of GM09595

text: in-law

text: Homo sapiens

text: Caucasian

text: Male

text: GTS

characteristic: tag

text: Gilles de la tourette syndrome

text: GM09911 male unaffected Gilles de la tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 6 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20191 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 children have neonatal hemochromatosis;HLA type: A2;B7/A1;B35;DR3;DRw8;normal levels of serum iron;iron binding capacity;transferrin and ferritin levels but persistently abnormal liver function tests

characteristic: description

text: PORTUGUESE

text: father

characteristic: gene

characteristic: mutation

text: DEL

text: G>A

text: Homo sapiens

text: Caucasian

text: Male

text: Neonatal

text: Hemochromatosis

text: GM09912 male unaffected Hemochromatosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 61 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: PD

text: Parkinson disease

text: ND20200 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;2 children have neonatal hemochromatosis;HLA type: A3;B44/A1;B27;DR2;DR4;normal levels of serum iron;iron binding capacity;transferrin & ferritin levels but persistently abnormal liver function tests

text: PORTUGUESE

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Neonatal

text: Hemochromatosis

text: GM09913 female unaffected Hemochromatosis sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 37 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: ND20207 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 78 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01056B Lymphoid;46;XY;3% of cells show random chromosome loss and 2% show random gain

characteristic: description

text: proband

text: 45;X 4 /47;XY;+10 3 /46;XY 43;46;XY

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM09918 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 30 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20208 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

characteristic: NCBI submission package

text: Hypophosphatasia

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Abortus skin fibroblast culture;positive family history;deficient liver/ bone/kidney alkaline phosphatase activity in cultured chorionic villi;passage 1 at CCR

text: Homo sapiens

text: Caucasian

characteristic: race

text: Phosphoethanolaminuria - 241500 or 241510

text: Hypophosphatasia

text: GM09919 unknown affected Hypophosphatasia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND20209 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 3 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Severe speech & language delay;50th %ile for height;25th %ile for weight;& 5th %ile for head circumference;bilateral preauricular pits;fine & gross motor skills are delayed;both parents have normal karyotypes;see GM09946 Lym

text: proband

text: 46;XY;del(8)(pter>p21.3::p21.1>qter).ish del(8)(D8S596+;D8Z5+)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Chromosome deletion

characteristic: tag

text: GM09922 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20211 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 98 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;vigorous;edentulous;hearing deficit

characteristic: description

text: JEWISH

characteristic: ethnicity

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM09923 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20212 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected with a few cafe au lait spots and lipomas;father of GM09694;son of GM09616;mother and brother are affected

text: nephew

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Neurofibromatosis type i

text: GM09944 male unaffected Neurofibromatosis type i sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 82 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: scotish;Irish

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND20218 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Severe speech & language delay;50th %ile for height;25th %ile for weight;& 5th %ile for head circumference;bilateral preauricular pits;fine & gross motor skills are delayed;both parents have normal karyotypes;see GM09922 Fib

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

characteristic: tag

text: GM09946 male unaffected Chromosome deletion sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 84 YR

text: B-Lymphocyte

text: NINDS Repository

text: scotish;Irish;german;penn. Dutch

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20221 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: 31 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother of a boy with del(8);spouse of GM09948A;46;XX;4% of cells show random chromosome loss/gain

characteristic: description

text: mother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM09947 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 75 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ash Jewish

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND20232 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 31 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father of a boy with del(8);spouse of GM09947A;46;XY;4% of cells show random chromosome loss/gain

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM09948 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ash jewish

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

characteristic: tag

text: Population/convenience control

text: ND20233 male unaffected Control sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 11 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type II urogenital sinus with 2nd degree urinary tract obstruction;partial aniridia;mild left hemifacial microsomia;CHD (patent ductus arteriosus);cerebral vasculitis developed at about age 7 yrs;46;XX in peripheral blood lymphocytes

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Genitourinary abnormalities

text: & VASCULITIS VASCULITIS

text: GM09958 female affected Aniridia, genitourinary abnormalities aniridia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 35 MO

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

text: ND20234 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 22 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B.S. Registry #27;born at term;birth weight = 1;960 grams;at age 2 years: weight = 6.8 kg;height = 74 cm;short stature;learning disabilities;sun sensitive facial telangiectasias;cafe-au-lait spots;high rate of sister chromatid exchange;chromosome breakage;donor subject is homozygous for a 6-bp deletion/7-bp insertion 6-bp del/7-bp ins at nucleotide 2;281 of the open reading frame of the RECQL3 gene;which results in a frameshift and a stop codon;same donor as GM16377.

text: ASHKENAZI

characteristic: ethnicity

text: proband

characteristic: gene

text: 6-BP DEL/7-BP INS

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM09960 female affected RECQL3 sample


text: Coriell

text: live

text: Generic

text: 26 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: African American

characteristic: race

text: Female

characteristic: sex

text: ND20235 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Retinoblastoma, sporadic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;X;t(X;13)(Xpter>Xq23::13q13>13qter;13pter>13q13::Xq23>Xqter);affected;at age 9 mo was in <5th %ile for length;weight;& head circumference;lethargic;generally decreased tone;& weak cry;developmental delay

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: Retinoblastoma, sporadic

text: GM09963 female affected Retinoblastoma, sporadic sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: African American

text: Male

text: ND20236 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 16 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Short stature;poor tooth enamel;& many teeth removed;no other ectodermal signs;heterozygote manifesting adrenal insufficiency with no muscle weakness;2 affected brothers;see GM10490A Lymphoid

characteristic: description

text: sister

text: Homo sapiens

text: Black

text: Female

text: GM09964 female unaffected Adrenal hypoplasia with additional congenital malformations sample


text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Progressive supranuclear palsy

text: ND20237 male affected Progressive supranuclear palsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 liveborn affected son;1 son expired at 5 mo of gestation with hypoplastic adrenals & a subcapsular hemorrhage;2nd son died at 31 wk gestation with achondroplasia;cryptorchidism;? CHD;& hydrocephalus

text: mother

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: GM09965 female unaffected Adrenal hypoplasia with additional congenital malformations sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND20238 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 3 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin shows many areas of erosions in various stages of healing;buccal mucosa also shows areas of erosions;probably recessive dystrophic HallopeauSiemens type

text: Homo sapiens

text: Black

text: Male

characteristic: tag

text: GM09979 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND20249 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 package

text: DMD

text: 13 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;inherited balanced translocation (maternal);diagnosed with DMD at age 12;onset of symptoms at age 6;toe gait;flexion deformities of hips;knees and Achilles tendon;marked hypertrophy of the calves;positive Gower's sign;lumbar lordosis;markedly elevated CPK;muscle biopsy consistent with DMD;mother (GM09982) is also affected;donor subject shows a duplication of exons 2-4 of the dystrophin gene by multiplex ligation probe amplification (MLPA) analysis

text: proband

text: DMD

characteristic: gene

text: 46;t(X;18)(Xqter>Xp21::18q23>18qter;18pter>18q23::Xp21>Xpter);Y.ish t(X;18)(VIJ22050+;VIJ22050-);46;Y;t(X;18)(Xqter>Xp21::18q23>18qter;18pter>18q23::Xp21>Xpter)

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Muscular dystrophy: duchenne type

text: Translocated chromosome

text: DMD

text: Dystrophin

text: GM09981 male affected DMD sample


text: Coriell

text: live

text: Generic

text: 38 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND20250 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Muscular dystrophy: duchenne type

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected female;balanced chromosome translocation;muscle weakness since age 3;fixed equinus deformity of right foot;marked hypertrophy of the calves;wheelchair bound about age 34;muscle biopsy showed pathologic changes consistent with muscular dystrophy;elevated CPK of 4;014;affected son is GM09981.

characteristic: description

text: mother

text: 46;X;t(X;18)(Xqter>Xp21::18q23>18qter;18pter>18q23::Xp21>Xpter);46;X;t(X;18)(Xqter>Xp21::18q23>18qter;18pter>18q23::Xp21>Xpter).ish t(X;18)(VIJ22050+;VIJ22050-)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Muscular dystrophy: duchenne type

text: Translocated chromosome

text: DMD

text: GM09982 female affected Muscular dystrophy: duchenne type sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND20251 male affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected niece is GM09792 and affected nephew is GM09789.

text: ASHKENAZI

characteristic: ethnicity

text: paternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: GM09984 female unaffected Neuropathy, hereditary sensory and autonomic type iii sample


text: Coriell

text: live

text: Generic

text: 55 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND20256 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;2 miscarriages;spouse of GM09988;mother of GM09986

characteristic: family id

text: mother

text: 46;XX;inv(21)(pter>p13::q22.1>p13:: q22.1>qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Inverted chromosome

text: GM09987 female unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND20257 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: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Blistering lesions since birth;blisters usually occur at sites of friction on the hands & feet;multiple filled dental caries;heart murmur;many affected individuals in pedigree including pt's father & daughter;probably EB simplex

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM09989 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 27 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND20258 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 6 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Blisters since birth;blisters develop at sites of friction on hands & feet;positive family history;probably EB simplex

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: GM09990 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: italian;northern european mix

characteristic: ethnicity

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND20264 male unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Blisters since birth;blisters develop at sites of friction on hands & feet;several pigmented melanocytic moles;probably EB simplex;son of GM09992

text: nephew

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM09991 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND20290 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 45 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Blisters since birth;blisters develop at sites of friction on hands & feet;numerous dental caries & multiple tooth extractions;positive family history;probably EB simplex;mother of GM09991

characteristic: description

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM09992 female affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: second cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND20302 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Citrullinemia

text: 13 DA

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Elevated serum glutamine;glutamic acid;alanine;citrulline;& ornithine;deficient fibroblast Argininosuccinate synthetase activity;normal fibroblast Argininosuccinate lyase activity;46;XX;lung fibroblast culture

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Citrullinemia

text: Classic

text: GM09994 female affected Citrullinemia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: second cousin

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND20303 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;hypotonia;failure to thrive;micropenis;bitemporal narrowing

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: Inverted chromosome

text: GM09996 male unaffected Chromosome deletion sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: cousin-in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND20304 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acadian;clinically unaffected;1 affected brother (GM09458);son of GM09459 & 09456

text: ACADIAN

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Usher syndrome type ic

text: GM10001 male unaffected Usher syndrome type ic sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND20317 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 37 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son with the unbalanced translocation is tall;has mental retardation with unusual features;and has some of the features of Klinefelter syndrome;see GM04618 Fibroblast

characteristic: description

text: mother

characteristic: gene

text: 46;X;t(X;1)(Xqter>Xp22.1 or 22.13::1q24 or 25.1>1qter;1pter>1q24 or 25.1::Xp22.1 or 22.13>Xpter);46;X;t(X;1)(Xqter>Xp22.1::1q24>1qter;1pter>1q24::Xp22.1>Xpter)

characteristic: mutation

text: ARG296CYS AND SER486THR

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

characteristic: tag

text: GM10005 female unaffected Translocated chromosome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 14 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND20319 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Tall;mental retardation with unusual features;& has some of the features of Klinefelter syndrome

characteristic: family id

text: proband

text: 47;XY;+der(X)t(X;1)(Xqter>Xp22.1 or 22.13::1q24 or 25.1>1qter;1pter>1q24 or 25.1::Xp22.1 or 22.13>Xpter)mat

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Male

text: Translocated chromosome

text: GM10006 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 60 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: irish

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND20324 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Abetalipoproteinemia

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01453 Lymphoid;steatorrhea as an infant & child;absent apolipoprotein B;no chylomicrons;VLDL;or LDL present in circulation;consanguineous parents;affected bro died at age 9;maintained on vit E & K suppl;no neurologic disease

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Abetalipoproteinemia

characteristic: tag

text: ABL

text: GM10012 female affected Abetalipoproteinemia sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20328 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Triploid chromosome number

text: 14 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Fibroblast culture established from a miscarriage

text: Homo sapiens

text: Caucasian

text: Female

text: Triploid chromosome number

text: GM10013 female affected Triploid chromosome number sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: PD

text: Parkinson disease

text: ND20329 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 31 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;has had 1 daughter with the same translocation

text: parent

text: 46;XX;t(3;11)(3qter>3p21.3::11p14.2> 11pter;11qter>11p14.2::3p21.3>3pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM10015 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND20330 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Two affected children;clinically unaffected father of GM09893;passage 4 at CCR

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Neonatal

characteristic: tag

text: Hemochromatosis

text: GM10016 male unaffected Hemochromatosis sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 75 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND20331 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;normal glucose tolerance test;spouse of GM01247B;mother of GM08007 & 10018

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: GM10017 female unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

text: Generic

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND20332 male unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Turner syndrome;short stature;webbed neck;16% of cells are 45;X;del(Y) confirmed by in situ hybridization with Y centromere-specific probe DY23;normal DNA hybridization with Zfy probe;neg for PCR signal for Y specific Yq repeat

text: 45;X 46 /46;X;del(Y)(pter>q11.2:) 4

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Turner syndrome

text: GM10040 female unaffected Aneuploid chromosome number - non-trisomic sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND20335 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;normal glucose tolerance test;father was unaffected uncle of GM01247B;father of GM10044 & 01838;spouse of GM10041A;1 child with a normal GTT;1 affected child (IDDM);& 1 child with a nondiagnostic GTT

characteristic: description

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM10043 male unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

text: control family

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND20345 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;normal glucose tolerance test;father is affected;mother of GM10056 & 11616A;sister of GM10042;10045;10084;10086A;10165;10169;& 11456

text: paternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: GM10057 female unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 27 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

text: Female

text: Epilepsy

text: ND20347 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;impaired glucose tolerance test at age 43 & a normal glucose tolerance test at age 44;son of GM08091A & 10060

text: paternal second cousin

text: Homo sapiens

text: Caucasian

text: Male

text: GM10058 male unaffected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND20348 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;nondiagnostic glucose tolerance test at age 45 and an impaired glucose tolerance test at age 46;son of GM08091A and 10060

text: paternal second cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM10059 male unaffected Maturity-onset diabetes of the young type i sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND20349 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Holoprosencephaly;parents are GM10067 {46;XY;t(7;13)} & GM10068 (46;XX) Lymphoid;passage 3 at IMR

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

characteristic: tag

text: Holoprosencephaly

text: GM10064 female unaffected Holoprosencephaly sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: english;german;danish

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND20359 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title