text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Female

characteristic: sex

text: ND25817 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

tag: attribute

text: 11 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP73TMA;Turkish;clinically affected;affected sisters are GM14877 and GM15723 Lymphoid;see GM14878A Lymphoid;skin legions onset at age 5 yrs;skin carcinomas;freckles;consanguinity;donor subject is homozygous for an A>G transition in intron 3 of the XPC gene (IVS3-24A>G) which results in expression of both an mRNA of short size and the wild type size;the shorter mRNA has a skipped exon 4 which results in a frameshift and premature termination

characteristic: description

text: TURKISH

characteristic: ethnicity

characteristic: family id

text: sister

text: XPC

characteristic: gene

text: A>G

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: XPC

text: GM14879 female affected Xeroderma pigmentosum, complementation group c sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

text: ND25818 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Xeroderma pigmentosum, variant type

text: 16 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP74TMA;Turkish;clinically affected;affected brother is GM14883;skin legions onset at age 4 yrs;no skin carcinomas;telangiectasias;actinic keratosis;freckles;hypopigmentation;consanguinity;normal unscheduled DNA synthesis

text: TURKISH

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Xeroderma pigmentosum, variant type

text: XPV

text: GM14881 male affected Xeroderma pigmentosum, variant type sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 7 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND25819 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Tourette syndrome

text: ND25829 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies;growth and mental retardation;increased soluble glutamic oxaloacetic transaminase activity

characteristic: description

text: maternal third cousin

text: 46;XY;-17;+der(17)t(10;17)(17qter> 17p13::10q24>10qter)mat;46;XY;der(12)(11qter->11q13::12p13->12qter);der(17)(10qter->10q24::7p13->7qter)mat 16 /46;XY;der(17))(10qter->10q24::7p13->7qter)mat 8 /47;XY;+7;der(17)(10qter->10q24::7p13->7qter)mat 1 .arr 10q24.2q26.3(100429248-135356682)x3;11q13.3q25(69301994-131112561)x2~3;12p13.1(31468-1154130)x1~2;17p13.3(513-1869520)x1;46;XY;der(12)(12qter>12p13::11q13>11qter);der(17)(17qter>17p13::10q24>10qter)mat 54 /46;XY;der(17)(17qter>17p13::10q24>10qter)mat 42 / 47;XY;+7;der(17)(17qter>17p13::10q24>10qter)mat 4

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM00959 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Male

characteristic: tag

text: ND25834 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Porphyria cutanea tarda

text: 70 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Porphyria cutanea tarda

text: GM00961 male affected Porphyria cutanea tarda sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25835 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Porphyria - coproporphyria

text: 59 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;46;XX;see GM02302 Lymphoid

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Porphyria - coproporphyria

text: GM00962 female affected Porphyria - coproporphyria sample


text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Hispanic/Latino

characteristic: race

text: Male

text: ND25837 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Hurler-scheie syndrome

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Alpha-L-Iduronidase;Hurler/ Scheie syndrome

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Hurler-scheie syndrome

text: GM00963 male affected Hurler-scheie syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND25838 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 51 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;skin biopsy (left forearm);tendency to develop translocations in vitro;see GM01310B Lymphoid;19% of cells show random chromosome loss/gain;same patient as GM13335 biopsied 6 years earlier

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM00967 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 4 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Male

characteristic: sex

text: Epilepsy

text: ND25839 male affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;46;XX;6% of cells show random chromosome loss and 2% showed random chromosomal aberrations

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM00969 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25840 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 3 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;46;XY;6% of cells show random chromosome loss

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Apparently healthy non-fetal tissue

text: GM00970 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25843 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01063B Lymphoid;mental retardation;height;weight;and head circumference below the 3rd %ile;grade II-IV systolic murmur;abnormal facies;finger and toe abnormalities

characteristic: description

text: proband

text: 46;XX;t(4;13)(4pter>4q31::13q14>13qter;13pter>13q14::4q31>4qter);arr(1-22;X)x2

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

characteristic: tag

text: GM00972 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive supranuclear palsy

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND25846 female affected Progressive supranuclear palsy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Porphyria cutanea tarda

text: 81 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

text: Caucasian

text: Female

text: Porphyria cutanea tarda

text: GM00977 female affected Porphyria cutanea tarda sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND25847 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Formerly GM00188;97% of cells are 45;X;tissue from right gonadal streak

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: GM00978 female unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

text: Generic

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Male

text: ND25850 male 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: 33 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 45;XX;+der(11)(11pter> 11q25::22q11>22qter;22pter>22q11::11q25> 11qter);-22;45;XX;-11;-22;+der(11)t(11;22)(q25;q11)/45;XX;-11;-22;+der(11)t(11;22) (q25;q11);t(1;4)(q25;p12);arr 22q11.1q11.21(15034356-17964688)x1

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM00980 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND25851 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Retardation and multiple anomalies

characteristic: description

text: proband

text: 46;XX;der(14)(14qter>14p11.2::20p11.1>20pter)mat;inv(9) (pter>p13::q13>p13::q13>qter);arr 20p13p11.1(9292-26222822)x3

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

text: GM00981 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 34 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND25860 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal

text: mother

text: 46;XX;t(14;20)(14qter>14p11.2::20p11.1> 20pter;20qter>20p11.1::14p11.2>14pter);inv(9)(p12q12)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

text: GM00982 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: ash j

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND25865 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal soluble glutamic oxaloacetic transaminase activity

characteristic: family id

text: proband

text: 46;XY;der(21)(21pter->21q22::10q24->10qter)mat.arr 10q24.32q26.3(104611715-135356682)x3;21q22.13q22.3(38324074-46921373)x1;46;XY;der(21)(21pter> 21q22::10q24>10qter)mat

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM00983 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: ash j

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND25867 male affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 3 WK

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies;10% of cells show random chromosome aberrations

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM00988 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 31 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND25872 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: CF

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 7 months;negative family history for CF;sweat chloride: 120 meq/ L;on enzyme replacements;expired at age 11;defective fibroblast cAMP-stimulated Cl-channel;donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL)

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: GM00997 male affected CF sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Male

text: Epilepsy

text: ND25873 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: CF

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Confirmed by dexamethasone resistance;sweat chloride: 126 meq/L;on enzyme therapy;donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL)

text: CFTR

text: Homo sapiens

text: Caucasian

text: Male

text: CF

characteristic: tag

text: Cystic fibrosis

text: CFTR

text: GM00998 male affected CF sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sibling

text: Homo sapiens

text: More than one race

text: Female

characteristic: sex

text: Epilepsy

text: ND25874 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: CF

text: 13 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 3;1 affected and 6 normal sibs;sweat chloride: 144 meq/L;symptoms are GI and pulmonary;donor subject is a compound heterozygote: one allele of the CFTR gene carries a G-to-T substitution at 621+1 in intron 4 which results in an mRNA splicing defect (621+1G>T) and a second allele carries an insertion of TC after nucleotide 1154 (1154insTC) which results in a frameshift

characteristic: description

text: CFTR

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM00999 female affected CF sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND25875 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Cystic fibrosis

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Elevated sweat chloride

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: CF

text: Cystic fibrosis

text: GM01011 male affected Cystic fibrosis sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 27 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND25876 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: CF

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Elevated sweat chloride;similarly affected sib;donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL)

text: proband

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM01012 male affected CF sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 50 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND25885 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Cystic fibrosis

text: 11 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Elevated sweat chloride

characteristic: description

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM01013 male affected Cystic fibrosis sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 25 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND25889 male affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: CF

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: proband

text: CFTR

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: CF

characteristic: tag

text: Cystic fibrosis

text: CFTR

text: GM01014 male affected CF sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25895 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Carrier level of arylsulfatase A;clinically unaffected father of a child with the juvenile type

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Metachromatic leukodystrophy

text: GM01016 male unaffected Metachromatic leukodystrophy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND25896 male affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Metachromatic leukodystrophy

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Juvenile type;HLA type A2;A29;B12;B16;same patient as GM01785;deficient arylsulfatase A in lymphoblast culture

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Metachromatic leukodystrophy

text: GM01017 female affected Metachromatic leukodystrophy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND25897 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Metachromatic leukodystrophy

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of a child with infantile MLD;reduced activity of arylsulfatase A;produces IgG4;proband not in Repository;Puerto Rican

text: PUERTO RICAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Metachromatic leukodystrophy

characteristic: tag

text: GM01018 female affected Metachromatic leukodystrophy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 49 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25898 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Father of a Juvenile Gaucher;low-normal acid B-glucosidase;proband not in Repository;donor subject has an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 Asn370Ser (N370S) codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

text: GBA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GBA

text: Glucosidase acid beta

text: Gaucher disease type iii

text: GM01019 male unaffected Gaucher disease type iii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND25899 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Mucopolysaccharidosis type vi

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Deficient arylsulfatase B;short;coarse facies;prominent forehead;corneal opacities;lumbar kyphosis;stiff joints;umbilical hernia;mild hepatosplenomegaly;and dysostosis multiplex;see GM00519 Fibroblast;same patient as GM05358

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Mucopolysaccharidosis type vi

text: GM01022 female affected Mucopolysaccharidosis type vi sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 23 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

characteristic: tag

text: ND25901 male affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 31 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: See GM00289 Fibroblast;low-normal Alpha-L-Fucosidase activity;enzyme phenotypes: Neutral Alpha-glucosidase C=1;ADA=1;1;2 affected children

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Fucosidosis

text: GM01023 male unaffected Fucosidosis sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Male

characteristic: sex

text: ND25902 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Fucosidosis

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Type 2;see GM00291 Fibroblast;deficient Alpha-L-Fucosidase

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Fucosidosis

text: GM01024 male affected Fucosidosis sample


text: Coriell

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND25903 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Fucosidosis

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM00292 Fibroblast;deficient AlphaL-Fucosidase;Type 2;similarly affected sib

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Fucosidosis

text: GM01025 male affected Fucosidosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND25904 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM00290 Fibroblast;low-normal Alpha-L-Fucosidase activity;Neutral Alpha glucosidase C phenotype=1;2 affected children

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Fucosidosis

text: GM01026 female unaffected Fucosidosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 11 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

text: ND25912 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A1/A2;B12;see GM00440 Fibroblast;46;XX/46;X;t(X;11);92%/8%;balanced in fibroblasts;no detectable transferase activity in fibroblasts;GALT gene mutations: Gln188Arg (Q188R) / Gln188Arg (Q188R)

text: sister

text: GALT

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: GALT

characteristic: tag

text: Galactosemia

text: GM01028 female affected Galactose-1-phosphate uridylyltransferase sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 15 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sibling

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

text: ND25913 male affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HLA type A2;B12/A28;Bw35;see GM00439 Fibroblast;50% of normal transferase activity in erythrocytes;2 affected children;46;X;t(X;3)(Xpter>Xq26::3p12> 3pter;3qter>3p12::Xq26>Xqter);balanced in fibroblasts;GALT gene mutation is Gly188Arg (Q188R) /+

characteristic: family id

text: mother

text: GALT

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: GALT

text: Galactosemia

text: GM01029 female unaffected Galactose-1-phosphate uridylyltransferase sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND01144 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother of a Juvenile Gaucher;low-normal acid B-glucosidase;proband not in Repository;spouse of GM01031;donor subject has an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 Asn370Ser (N370S) codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

characteristic: description

text: parent

text: GBA

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: GBA

text: Glucosidase acid beta

text: Gaucher disease type iii

text: GM01030 female unaffected Gaucher disease type iii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND01145 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father of a Juvenile Gaucher;low-normal acid B-glucosidase;proband not in Repository;spouse of GM01030;the donor has a splicing mutation in IVS2 at the +1 nucleotide in the GBA gene (IVS2+1G>A) resulting in destruction of the consensus donor site for GBA mRNA splicing and the skipping of exon 2 (codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG)

characteristic: family id

text: parent

text: GBA

characteristic: mutation

text: G>A

text: Homo sapiens

text: Caucasian

text: Male

text: GBA

text: Glucosidase acid beta

text: Gaucher disease type iii

text: GM01031 male unaffected Gaucher disease type iii sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Intracranial rupture-status undefined

text: ND01146 female affected Intracranial rupture-status undefined sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Hurler-scheie syndrome

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A9;A10;B13;clinically affected;alpha-L-iduronidase deficiency confirmed in skin fibroblasts;Hurler/ Scheie syndrome

text: INDO PAKISTANI

characteristic: ethnicity

text: Homo sapiens

text: Asiatic Indian

characteristic: race

text: Female

text: Hurler-scheie syndrome

text: GM01032 female affected Hurler-scheie syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Hurler syndrome

text: 2 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: HLA type A2;Aw30;B12;Bw22;same patient as GM01867;clinically affected with Hurler syndrome

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Hurler syndrome

characteristic: tag

text: GM01034 female affected Hurler syndrome sample


text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01147 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Porphyria cutanea tarda

text: 69 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

text: Caucasian

text: Female

text: Porphyria cutanea tarda

text: GM01041 female affected Porphyria cutanea tarda sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: ND01148 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Citrullinemia

text: 8 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01204A Lymph;deficient Argininosuccinate synthetase;no detectable enzyme antigen;no differences observed for control and patient mRNA using S1 nuclease mapping

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Citrullinemia

text: Classic

text: GM01044 male affected Citrullinemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND01164 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Hurler syndrome

text: 4 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Deficient alpha-L-Iduronidase;culture grows slowly;Hurler syndrome

text: Homo sapiens

text: Caucasian

text: Male

text: Hurler syndrome

text: GM01053 male affected Hurler syndrome sample


text: Coriell

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial rupture-status undefined

characteristic: tag

text: ND01167 male affected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HLA type A9;29;B12;Bw15;secretes IgA2 (Lambda);46;XY;8% of cells show random chromosome loss/gain;see GM09918 Fibro

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM01056 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01168 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

characteristic: INSDC last update

text: live

text: Generic

text: Menkes syndrome

text: 5 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01245 Lymphoid;fibroblasts exhibit elevated copper concentration;46;XY;abnormal metallothionein gene regulation in response to copper

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Menkes syndrome

text: GM01057 male affected Menkes syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND01169 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 27 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM01206A Lymphoid;38% of normal argininosuccinate synthetase activity in fibroblasts;clinically unaffected father of GM01044

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Citrullinemia

text: Classic

text: GM01058 male unaffected Citrullinemia sample


text: Coriell

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial rupture-status undefined

text: ND01170 female affected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

text: 50 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Hypertonia;seizures;feeding difficulty;and multiple congenital anomalies;hemizygous for DNA markers closely linked to cystic fibrosis

characteristic: description

text: 46;XX;del(7)(pter->q22.3::q32.1->qter).arr 7q22.1q31.33(100365646-125643837)x1;8p23.1(7254762-7808960)x3;46;XX;del(7)(pter>q22.3::q32.1>qter);46;XX;del(7)(pter>q22::q32>qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

characteristic: tag

text: GM01059 female unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND01172

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01171 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Huntington disease

text: 51 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Choreoathetosis;dysarthria;and dysphagia;positive family history;see GM03642 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM01061 male affected Huntington disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND01171

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: ND01172 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 12 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Karyotype is unstable;HLA type A1;B12;Bw17;mental retardation;height;weight;and head circumference below 3rd %ile;grade II-IV systolic murmur;abnormal facies;finger and toe abnormalities;see GM00972 Fibroblast

text: proband

text: 46;XX;t(4;13)(4pter->4q31.3::13q14.3-> 13qter;13pter->13q14.3::4q31.3->4qter).arr(1-22;X)x2;46;XX;t(4;13)(4pter>4q31.3::13q14.3> 13qter;13pter>13q14.3::4q31.3>4qter)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

text: GM01063 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

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

characteristic: description

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: PD

text: Parkinson disease

text: ND01173 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 39 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal

characteristic: family id

text: father

text: 46;XY;t(2;4)(2qter>2p25::4q21>4qter;4pter>4q21::2p25>2pter)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM01064 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND01174 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;20% of cells show random chromosome loss;6% show random gain;centromeres of chromosomes #1 and #16 show fragility

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM01078 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 76 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01205;unaffected daughter is ND01176;unaffected grandson is ND01321

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Essential tremor-movement disorder

text: PD

text: Parkinson disease

text: ND01175 male affected Young onset parkinsons dna panel: affected individuals sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Porphyria

text: 21 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosis based upon characteristic porphyrins in erythrocytes;urine;and feces

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Porphyria

text: Congenital erythropoietic

text: GM01082 male affected Porphyria sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected father is ND01175;unaffected mother is ND01205;unaffected son is ND01321

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND01176 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Huntington disease

text: 47 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM03643 Lymphoid;choreoathetosis;dysarthria;and dysphagia;age of onset 35 years;the number of CAG repeats in the HD gene are 19 and 44

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM01083 female affected Huntington disease sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND01178

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: African American

text: Female

characteristic: sex

text: PD

text: Parkinson disease

text: ND01177 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 44 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Affected mother and grandmother;moderate ataxia;chorea;dysarthria;and dysphagia;see GM03644 Lymphoid;onset at age 35

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM01085 male affected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected daughter of ND01177

text: daughter

text: Homo sapiens

text: African American

text: Female

text: ND01178 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 27 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: History includes 1 miscarriage and 1 child with multiple congential anomalies

characteristic: description

text: 46;XX;t(4;10)(4pter>4q35::10q24>10qter;10pter>10q24::4q35>4qter);46;XX;t(4;10)(4pter>4q35::10q24>10qter;10pter>10q24::4q35>4qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM01091 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial rupture-status undefined

text: ND01182 female affected Intracranial rupture-status undefined sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal fibroblast alkaline phosphatase activity;clinically affected

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Non-lethal

text: GM01093 male affected Osteogenesis imperfecta: genetics uncertain sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: PD

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND01184

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND01183 male affected PD sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Mucopolysaccharidosis type iiia

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient heparan sulfate sulfatase;normal N-acetyl-alpha-glucosaminidase;same patient as GM01739;compound heterozygote;one allele carriers 9 bp deletion at nucleotide 1307 (1307del9) of the SGSH gene;no changes in other allele

text: proband

text: SGSH

characteristic: gene

text: 9-BP DEL

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Mucopolysaccharidosis type iiia

text: N-sulfoglucosamine sulfohydrolase

text: SGSH

text: GM01094 female affected Mucopolysaccharidosis type iiia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 72 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND01183;father;uncle;and cousin (none of whom are in the NINDS Repository) are affected with

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND01184 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of GM01094 and 01739

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Mucopolysaccharidosis type iiia

text: GM01095 female unaffected Mucopolysaccharidosis type iiia sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND00686

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND01185 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected father of GM01094 and 01739

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type iiia

text: GM01096 male unaffected Mucopolysaccharidosis type iiia sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND01191 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 20 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;see GM01712 Lymphoid;sensitive to UV irradiation;pigmentary retinopathy symptoms;gait defect;patient is CS2BE or CS5HO;complementation group B;donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 3614 in exon 18 of the ERCC6 gene (3614delT) causing a frameshift beginning at codon 1179 and ending with a stop codon at 1200 (1179fsX1200);the second allele has a deletion of exon 10 (del665_723)

text: proband

characteristic: gene

characteristic: karyotype

text: DEL EX10

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: CSB

text: Excision-repair cross-complementing group 6

text: Cockayne syndrome type b

text: GM01098 male affected ERCC6 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND01192 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 8 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mennonite;hypotonia;seizures;positive family history;homozygous for a T > A substitution in the E1 alpha subunit of BCKDH (BCKDHA) which changes tyrosine to asparagine at residue 394 of the polypeptide

characteristic: description

text: proband

text: BCKDHA

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: BCKDHA

text: Maple syrup urine disease (msud) type ia

text: GM01099 female affected Branched-chain keto acid dehydrogenase e1, alpha polypeptide sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial rupture-status undefined

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial rupture-status undefined

characteristic: tag

text: ND01193 female affected Intracranial rupture-status undefined sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 32 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: father

text: 46;XY;(4qter>4p16::12p11>12pter;12qter>12p11::4p16>4pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM01101 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND01198 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 30 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Non-Jewish;clinically unaffected mother of GM01110

text: PENNSYLVANIA DUTCH

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tay-sachs disease

text: TSD

text: GM01108 female unaffected Tay-sachs disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND01200

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND01199 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 31 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-Jewish;clinically unaffected father of GM01110

text: PENNSYLVANIA DUTCH

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tay-sachs disease

characteristic: tag

text: TSD

text: GM01109 male unaffected Tay-sachs disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND01199

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND01200 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

text: Generic

text: TSD

text: 10 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-Jewish;electrophor shows absence of hex A band;consanguineous parents;synthesizes an altered a-chain polypeptide: N-glycosylated but not phosphorylated;secreted;or processed to mature form;donor subject is homozygous for a single nucleotide substitution from G to A at nucleotide 1444 in exon 13 of the HEXA gene (1444G>A) resulting in the substitution of lysine for glutamic acid at codon 482 Glu482Lys (E482K)

text: PENNSYLVANIA DUTCH

text: proband

text: HEXA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tay-sachs disease

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM01110 male affected TSD sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND01201 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 78% of cells have r(18) at passage 18;multiple congenital anomalies

characteristic: description

text: MEXICAN-AMERICAN

characteristic: ethnicity

text: 46;XX;r(18) 39 /45;XX;-18 11

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ring chromosome

text: GM01118 female unaffected Ring chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: ND01203 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Monozygotic twin pairs

text: 9 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Bilateral;early onset;multifocal;monozygotic twin of GM01131;no other family members affected;46;XX;conjunctiva fibroblast culture

text: proband

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Rb1 osteosarcoma, retinoblastoma-related included

text: Retinoblastoma

text: Monozygotic twin pairs

text: GM01123 female affected Monozygotic twin pairs sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 71 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01175;mother of ND001176 and grandmother of ND01321

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND01205 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Macular dystrophy, corneal, 1

text: 41 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Corneal button fibroblast culture;mucopolysaccharidosis type unknown

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Macular dystrophy, corneal, 1

text: GM01125 female affected Macular dystrophy, corneal, 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: PD

text: 83 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected sister is ND01210

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01209 female affected PD sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Two affected children;clinically unaffected father of GM01128 and 01129

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Homocystinuria

characteristic: tag

text: GM01126 male unaffected Homocystinuria sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 73 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister of ND01209

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND01210 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Homocystinuria

text: 11 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: B6 non-responsive;deficient cystathionine synthetase activity;similarly affected sibling

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Homocystinuria

text: GM01128 female affected Homocystinuria sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01212

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND01211 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Homocystinuria

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: B6 non-responsive

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Homocystinuria

text: GM01129 male affected Homocystinuria sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01211

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND01212 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Monozygotic twin pairs

text: 9 MO

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Bilateral;early onset;multifocal;monozygotic twin of GM01123;no other family members affected;46;XX;conjunctiva fibroblast culture

text: twin

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Rb1 osteosarcoma, retinoblastoma-related included

characteristic: tag

text: Retinoblastoma

text: Monozygotic twin pairs

text: GM01131 female affected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01214

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND01213 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Aneuploid chromosome number - trisomy

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinical features of Down syndrome

text: 48;XXY;+21;t(6;10)(6qter>6p25::10p11> 10pter;10qter>10p11::6p25>6pter);48;XXY;t(6;10)(6qter>6p25::10p11>10pter;10qter>10p11::6p25>6pter);+21

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Trisomy 21

text: Aneuploid chromosome number - trisomy

text: GM01137 male affected Aneuploid chromosome number - trisomy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01213

characteristic: description

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND01214 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 1 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Severe growth and mental retardation;multiple anomalies;heterozygous BA phenotype at ACP-1 locus;see GM09216 Lymphoid

characteristic: family id

text: proband

text: 46;XY;del(2)(pter->p25::p23->qter).arr 2p25.1p23.3(10238660-27005382);15q13.3(30226524-30644762)x1;46;XY;del(2)(pter>p25.1::p23.3>qter)

text: Homo sapiens

text: Black

text: Male

text: Chromosome deletion

text: GM01138 male unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 76 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01217

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Parkinsons panel: caucasian from the united states

characteristic: tag

text: PD

text: Parkinson disease

text: ND01216 male affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Culture is a mosaic: at passage 6;64% have only the t(15;17) and 36% have both;mother of a severely defective child with the unbalanced translocation;analysis with molecular probes shows the breakpoint on 17 to be p11.2

text: 46;XX;t(15;17)(15pter>q15::17p13>17pter;17qter>17p13::15q15>15qter) 32 /46;XX;t(15;17)(15pter>q15::17p13>17pter;17qter>17p13::15q15>15qter);t(6;13)(6qter>6p21::13q34>13qter;13pter>q34::6p21>6pter) 16

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM01139 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01216

characteristic: description

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND01217 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Hyperglycinemia

text: 16 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Passage 3 at CCR;2 affected sibs

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Hyperglycinemia

text: Isolated nonketotic type i

text: GM01140 male affected Hyperglycinemia sample


text: Coriell

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

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

text: husband

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND01220 male unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Chromosome deletion

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Bilateral;46;XX;del(13)(pter>q14.1:: q22.1>qter);see GM01484 Lymphoid and GM03022 SV40 Transformed Fibroblast;1.6 times more sensitive than normal cells to cell killing by ionizing radiation;nor sensitivity to DNA alkylating agents

text: proband

text: 46;XX;del(13)(pter->q13::q22->qter).arr 8p23.1(7259578-7847304)x3;13q13.3q21.33(38431010-43924729)x1;46;XX;del(13)(pter>q14.1::q22.1>qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: Retinoblastoma, sporadic

text: GM01142 female affected Chromosome deletion sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: description

text: wife

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND01221 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 23 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;normal RBC G6PD(B) level;Xg(a) antigen absent;Sardinian;G6PD is negative for 563T(Ser188Phe)S188F;844C (Asp282His)D282H;202A(Val68Met)V68M;and 376G(Asn126Asp)N126D mutations

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Glucose-6-phosphate dehydrogenase

text: Biochemical markers

text: GM01150 male unaffected Biochemical markers sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND01236 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Glucose-6-phosphate dehydrogenase

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;RBC deficient for G6PD(med type);Xg(a) antigen absent;Sardinian;G6PD mutation is 563C>T (Ser188Phe{S188F})

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Glucose-6-phosphate dehydrogenase

text: GM01151 male affected Glucose-6-phosphate dehydrogenase sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND01238 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Biochemical markers

text: 49 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;RBC deficient for G6PD(med type);Xg(a) antigen positive;Sardinian;G6PD mutation is 563C>T (Ser188Phe{S188F})

characteristic: description

text: father

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Glucose-6-phosphate dehydrogenase

text: Biochemical markers

text: GM01152 male affected Biochemical markers sample


text: Coriell

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 53 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial rupture-status undefined

text: ND01239 female affected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;normal RBC G6PD level;Xg(a) antigen positive;Sardinian;0.53 units G6PD in fibroblasts;slow growing culture;negative for G6PD 563T(Ser188Phe);844C(Asp282His);202A(Val68Met);and 376G(Asn126Asp) mutations

text: father

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: Glucose-6-phosphate dehydrogenase

text: GM01153 male unaffected Glucose-6-phosphate dehydrogenase sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01240 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

characteristic: INSDC last update

text: live

text: Generic

text: 37 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;double heterozygote;G6PD(med type) Xg(a)-/ G6PD(B) Xg(a)+;Sardinian;G6PD genotype is 563C>T (Ser188Phe{S188F})/ +

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Glucose-6-phosphate dehydrogenase

text: GM01154 female unaffected Glucose-6-phosphate dehydrogenase sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 66 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: first cousin once removed

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND01256 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX;double heterozygote G6PD(Seattle) Xg(a)+/ G6PD(B) Xg(a)-;Sardinian;G6PD is negative for 563T(Ser188Phe)S188F;844C(Asp282His)D282H;202A(Val68Met) V68M;and 376G(Asn126Asp)N126D mutations

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Glucose-6-phosphate dehydrogenase

text: GM01157 female unaffected Glucose-6-phosphate dehydrogenase sample


text: Coriell

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: ND01257 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Hyperglycinemia

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Passage 3 at CCR;2 affected sibs

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Hyperglycinemia

characteristic: tag

text: Isolated nonketotic type i

text: GM01162 male affected Hyperglycinemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01262 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Biochemical markers

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;deficient RBC G6PD;Xg(a) antigen positive;Sardinian;G6PD mutation is 563C>T (Ser188Phe{S188F})

text: brother

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Glucose-6-phosphate dehydrogenase

text: Biochemical markers

text: GM01163 male affected Biochemical markers sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial rupture-status undefined

text: ND01263 female affected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

text: 37 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX;double heterozygote G6PD(B) Xg(a)-/G6PD(med) Xg(a)+;G6PD genotype is 563C>T (Ser188Phe{S188F})/+

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Glucose-6-phosphate dehydrogenase

text: GM01165 female unaffected Glucose-6-phosphate dehydrogenase sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: ND01264 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Huntington disease

text: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Slurred speech;upper extremity chorea;no family history available

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM01168 male affected Huntington disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND01265 male affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Huntington disease

text: 50 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Choreoathetotic movements of all extremities and slurred speech;positive family history of HD

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM01169 male affected Huntington disease sample


text: Coriell

text: live

text: Generic

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND01266 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 37 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk (50%);a sister has HD

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: GM01171 female unaffected Huntington disease sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01277

characteristic: description

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND01276 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Turner syndrome

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Turner syndrome

text: GM01176 female unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01276

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND01277 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Porphyria cutanea tarda

text: 36 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Porphyria cutanea tarda

text: GM01179 male affected Porphyria cutanea tarda sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND01279 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Small for dates;abnormal facies;coloboma;multiple anomalies

characteristic: description

text: proband

text: 46;XY;der(4)(4qter-> 4p16.1::12p12->12pter)pat.arr 4p16.3p16.1(56706-5230591)x1;12p13.33p12.1(20690-25105913)x3;46;XY;der(4)(4qter> 4p16::12p11>12pter)pat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM01183 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND01285

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND01284 female affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Huntington disease

text: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Slurred speech;left upper extremity dysmetria;unsteady gait;positive family history of HD

text: Homo sapiens

text: Caucasian

text: Male

text: Huntington disease

text: HD

text: GM01187 male affected Huntington disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND01284;unaffected daughter is ND02924

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND01285 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Glucose-6-phosphate dehydrogenase

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;inv(9);G6PD(Seattle);Xg(a) antigen positive;Sardinian;24% of cells have marker chromosome 11q+ at passage 5;G6PD mutation is 844G>C (Asp282His {D282H})

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Glucose-6-phosphate dehydrogenase

text: GM01188 male affected Glucose-6-phosphate dehydrogenase sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 19 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND01287

text: proband

text: Homo sapiens

text: African American

characteristic: race

text: Female

text: Epilepsy

text: ND01286 female affected Epilepsy sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 70 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;RBC are heterozygous G6PD(B)/G6PD (med) but have normal levels of enzyme activity;Sardinian;G6PD genotype is 563C>T (Ser188Phe{S188F})/+

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Glucose-6-phosphate dehydrogenase

text: GM01192 female unaffected Glucose-6-phosphate dehydrogenase sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND01286

text: mother

text: Homo sapiens

text: African American

text: Female

characteristic: sex

text: ND01287 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Glucose-6-phosphate dehydrogenase

text: 50 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XX;RBC are heterozygous G6PD(B)/ G6PD(med) but are lacking enzyme activity;Sardinian;G6PD genotype is 563C>T (Ser188Phe{S188F})/563C>T (Ser188Phe {S188F})

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Glucose-6-phosphate dehydrogenase

text: GM01193 female affected Glucose-6-phosphate dehydrogenase sample


text: Coriell

text: live

text: Generic

text: 56 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: A daughter with epilepsy is not in the Repository;unaffected daughter is ND01289

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND01288 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 1 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Down syndrome phenotype;46;XX;-21;+ t(21;21) in peripheral blood lymphocytes;lymphoblast culture is 45;XX;-21 with 4% random chromosome loss

text: 45;XX;-21;45;XX;-21.arr 21q11.2q22.3(13322592-46921373)x1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Copy number variation (cnv) reference panel

text: GM01201 female unaffected Aneuploid chromosome number - non-trisomic sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: A sister with epilepsy is not in the Repository;unaffected mother is ND01288

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND01289 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 model

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 49;XXXXY;49;XXXXY.arr Xp22.33q28(108464-154887040)x4;8p23.1(7670475-7847304)x1

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM01202 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter is ND01291

characteristic: description

text: proband

text: Homo sapiens

text: African American

text: Female

characteristic: sex

text: Epilepsy

text: ND01290 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 30 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XX;t(4;12)(4pter>4q25::12p13.3> 12pter;12qter>12p13.3::4q25>4qter);46;XX;t(4;12)(4pter>4q25::12p13> 12pter;12qter>12p13::4q25>4qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM01203 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 32 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected daughter of ND01290

characteristic: family id

text: daughter

text: Homo sapiens

text: African American

text: Female

text: ND01291 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: Citrullinemia

text: 8 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: HLA type A2;B12/A28;Bw35;fibroblasts are deficient in argininosuccinate synthetase activity and show no detectable enzyme antigen;see GM001044 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Citrullinemia

text: Classic

text: GM01204 male affected Citrullinemia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected brother is ND01316

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01315 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A28;Bw35/A1;B13;Neutral alphaglucosidase C phenotype=1

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Citrullinemia

text: Classic

text: GM01205 female unaffected Citrullinemia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected brother is ND01315

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND01316 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample