characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 15 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND21658 male affected Tourette syndrome sample


status: PUBLIC

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Hurler-scheie syndrome

tag: attribute

text: 3 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Consang parents;massive cardiomyopathy with hepatosplenomegaly;umbilical & inguinal hernias;develop delay;charac vertebral body changes in the lumbar region;def liver;muscle;& fibro Alpha-L -iduronidase act;Hurler/Scheie syndrome

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Hurler-scheie syndrome

text: GM11495 male affected Hurler-scheie syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21659 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Cystic fibrosis

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Short stature;growth hormone deficiency;uniparental disomy for chromosome 7;pancreatic insufficiency since childhood;at age 19.5;has moderate pulmonary disease with localized bronchiectasis and allergic bronchopulmonary aspergillosis;homozygous for exon 11 Gly542TER (G542X) nonsense mutation;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 9T/9T

text: proband

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Human gene mutation panel - cystic fibrosis (version 2)

text: CF

text: Cystic fibrosis

text: Copy number variation (cnv) refernece panel 02

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM11496 female affected Cystic fibrosis sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND21660 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;heterozygous for exon 11 GLY542TER (G542X) nonsense mutation

characteristic: description

text: brother

text: CFTR

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM11497 male unaffected CF sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND21661 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Translocated chromosome

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;multiple metabolic problems;cannot determine cytogenetically if translocation is balanced or unbalanced

text: 46;X;t(Y;8)(Ypter>Yq11::8p23>8pter;8qter>8p23::Yq11>Yqter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM11499 male affected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21662 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: Vertebral anomalies

text: 3 MO

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Classic radiologic stigmata : sht thorax with fused ribs (crab thorax) & mult cerv;thorac;& lumbar vertebra defects including hemivert & misshapen vertebral bodies (scrambled vertebrae);nor urogenital system;negative family history

text: ENGLISH/GERMAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Vertebral anomalies

text: GM11503 female affected Vertebral anomalies sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 16 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND21663 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;1 affected daughter

characteristic: description

text: GERMAN

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Vertebral anomalies

text: GM11504 male unaffected Vertebral anomalies sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND21673 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 32 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Vertebral anomalies

text: GM11505 female unaffected Vertebral anomalies sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 61 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21674 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mild to moderate developmental delay;pectus excavatum;history of recurrent infections;46;XY;der(4)ins(4;14)(4pter> 4q13.2::14q13.3>14q23.3::4q13.2>4qter) pat.ish der(4)ins(4;14)(wcp4+;wcp14+)

text: proband

text: 46;XY;der(4)(4pter>4q13.2::14q13.3>14q23.3::4q13.2>4qter)pat.ish der(4)(wcp4+;wcp14+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome insertion

text: GM11510 male unaffected Chromosome insertion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: African American

text: Female

text: Epilepsy

characteristic: tag

text: ND21689 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;46;XY;ins(4;14) (q13.2;q13.3q23.3).ish ins(4;14)(wcp4+;wcp14+;wcp4-;wcp14+)

characteristic: description

text: father

text: 46;XY;ins(4;14)(4pter>4q13.2::14q13.3>14q23.3::4q13;2>4qter;14pter>14q13.3::14q23.3>14qter).ish ins(4;14)(wcp4+;wcp14+;wcp4-;wcp14+)

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Chromosome insertion

text: GM11511 male unaffected Chromosome insertion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 31 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Black/African American|Other|african|

characteristic: ethnicity

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND21690 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Angelman syndrome

text: 4 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ataxic movements;inappropriate laughter;neonatal hypotonia;fair-skinned and blond;no speech;decreased muscle tone;flattened occiput;prominent jaw

characteristic: family id

text: proband

text: 46;XX;del(15)(pter>q11::q13>qter).ish del(15)(D15S11-);46;XX;del(15)(pter>q11::q13>qter).ish del(15)(D15Z1+;D15S10/UBE -;PML+);46;XX.ish del(15)(q11q13)(D15Z1+;D15S10-;PML+).arr 15q11.2q13.1(19803357-26872582)x1

text: Homo sapiens

text: Caucasian

text: Female

text: AS

text: Angelman syndrome

text: Chromosome deletion

text: GM11516 female affected Angelman syndrome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: ND21691 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected parent of GM11516;46;XX in PBL

characteristic: description

text: mother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: AS

characteristic: tag

text: Angelman syndrome

text: GM11517 female unaffected Angelman syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

characteristic: race

text: Male

text: ND21692 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected parent of GM11516;46;XY in PBL

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: AS

text: Angelman syndrome

text: GM11518 male unaffected Angelman syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 17 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND21693 male affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Translocated chromosome

text: 4 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Congen pulmonary lymphangiectasis;persistent fetal circulation;failure to thrive;gastroesophageal reflux;microcephaly;developmental delay;mother is GM11532 Lymph;molec studies needed to determine if transloc is reciprocal

text: proband

text: 46;XY;9qh+;t(9;16)(9qter>9p24::16q22> 16qter;16pter>16q22::9p24>9pter);46;XY;9qh+;t(9;16)(9qter>9p24::16q22>16qter;16pter>16q22::9p24>9pter) .ish t(9;16)(D9Z1+;D9S325-;D9Z1-;D9S325+)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM11520 male affected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND21694 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Neuroaxonal dystrophy

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hispanic;skin fibroblast culture;expired at age 10;brain findings include: atrophy of cerebral convolutions;decreased bulk;& sclerosis of white matter;axonal dystrophy & swellings;presence of spheroids;& poor myelination

characteristic: description

text: HISPANIC

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Infantile

characteristic: tag

text: Neuroaxonal dystrophy

text: GM11529 male affected Neuroaxonal dystrophy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Male

text: ND21695 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Neuroaxonal dystrophy

text: 10 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hispanic;lung fibroblast culture;expired at age 10;brain findings include: atrophy of cerebral convolutions;decreased bulk;& sclerosis of white matter;axonal dystrophy & swellings;presence of spheroids;& poor myelination

text: HISPANIC

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Infantile

text: Neuroaxonal dystrophy

text: GM11530 male affected Neuroaxonal dystrophy sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21701 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: 26 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of a child;GM11520 Lymphoid;with a 46;XY;t(9;16) karyotype;46;XX with 8% random chromosome loss in lymphoblast culture

text: mother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM11532 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21702 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 14 YR

text: Tumor-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Peripheral neuroepithelioma derived cell line N1000;EM exam of tumor showed classic neurosecretory granules & neuritic processes;line tested pos for the presence of catecholamine metabolites & neuron specific enolase;pass 1 at CCR

characteristic: description

text: 56;XY;t(11;22)(q24;q12);+5;+7;+8;+15;+18;+20;+21;+der(22)t(11;22)(q24;q12) +mars

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

characteristic: tag

text: GM11534 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND21703 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected child;see GM11537 Fibroblast

text: JEWISH

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM11536 female unaffected Cockayne syndrome type a - 216400 or type iii - 216411 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21721 male affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 38 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected child;see GM11539 Fibroblast

text: JEWISH

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM11538 male unaffected Cockayne syndrome type a - 216400 or type iii - 216411 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21722 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Cockayne syndrome type unspecified

text: 3 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Short stature;microcephaly;sun sensitivity;calcification of basal ganglia;mental retardation;MRI shows marked delay in white matter maturation;46;XX & normal SCEs in PBL;see GM11541 Fibroblast

characteristic: description

text: JEWISH

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Cockayne syndrome type unspecified

characteristic: tag

text: GM11540 female affected Cockayne syndrome type unspecified sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND21723 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 3 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Short stature;microcephaly;sun sensitivity;calcification of basal ganglia;mental retardation;MRI shows marked delay in white matter maturation;46;XX & normal SCEs in PBL;see GM11540 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM11541 female affected Cockayne syndrome type a - 216400 or type iii - 216411 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21724 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: Cockayne syndrome type unspecified

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Markedly short stature;mental retardation;intracranial calcification of basal ganglia;microcephaly;scoliosis;ataxia;sun sensitivity;marked freckling of face & upper extremities;see GM11551 Fibroblast

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Cockayne syndrome type unspecified

text: GM11550 female affected Cockayne syndrome type unspecified sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21725 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Cockayne syndrome type unspecified

text: 16 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Markedly short stature;mental retardation;intracranial calcification of basal ganglia;microcephaly;scoliosis;ataxia;sun sensitivity;marked freckling of face & upper extremities;see GM11550 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Cockayne syndrome type unspecified

text: GM11551 female affected Cockayne syndrome type unspecified sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21726 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 33 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;chromosome analysis performed following birth of son with Down syndrome

characteristic: description

text: 45;XX;der(9)(9qter>9p24.3:: 21q11.2>21qter);-21

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM11553 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Progressive supranuclear palsy

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: American Indians & White

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Female

text: Progressive supranuclear palsy

characteristic: tag

text: ND21733 female affected Progressive supranuclear palsy sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Reticulosis

text: 2 MO

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Similarly affected twin sisters had lactic acidosis;hepatic failure;& hyperammonemia;pt has lethargy & lactic acidosis;liver biopsy showed a striking infiltration of histiocytes

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Familial histiocytic

text: Reticulosis

text: GM11554 female affected Reticulosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: American Indian & African American & White

characteristic: family id

text: spouse

text: Homo sapiens

text: More than one race

text: Male

text: ND21734 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Holocarboxylase synthetase deficiency

text: 16 FW

characteristic: age

text: Amniotic fluid-derived cell line

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Amniocytes have <1% of control holocarboxylase synthetase activity;pyruvate carboxylase;propionyl CoA carboxylase;& 3-methylcrotonyl CoA carboxylase enzyme activities were also very low;2 affected sibs;slow growing culture;donor subject is a compound heterozygote: one allele has a IVS10+5G>A mutation in the HCLS gene and a second allele has a proline for leucine substitution at codon 514 Leu514Pro (L514P)

text: GERMAN

text: HLCS

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Holocarboxylase synthetase deficiency

text: HLCS

text: Holocarboxylase synthetase

text: GM11576 female affected Holocarboxylase synthetase deficiency sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

characteristic: tag

text: ND21736 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line J2;adult from the San Francisco Bay area;Yale-Stanford Collection

characteristic: description

text: JAPANESE

characteristic: ethnicity

text: Homo sapiens

text: Asian

text: Male

characteristic: sex

text: Japanese population

text: GM11587 male unaffected Japanese population sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND21737 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Line J5;adult from the San Francisco Bay area;Yale-Stanford Collection. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (99%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597)

text: JAPANESE

text: Homo sapiens

text: Asian

text: Female

text: Japanese population

text: GM11589 female unaffected Japanese population sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND21738 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line J7;adult from the San Francisco Bay area;Yale-Stanford Collection. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (99%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597)

text: JAPANESE

text: Homo sapiens

text: Asian

text: Female

text: Japanese population

characteristic: tag

text: GM11590 female unaffected Japanese population sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Male

characteristic: sex

text: Epilepsy

text: Tourette syndrome

text: ND21741 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Vertebral anomalies

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymmetrical hemivertebrae & cleft vertebrae from C3 through lumbar vertebrae;fused ribs;congenital omphalocele;absence of 1 kidney;congenital undescended testes;negative family history

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Vertebral anomalies

text: GM11592 male affected Vertebral anomalies sample


text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Other

text: Male

text: ND21742 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 21 FW

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM11597 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

characteristic: organism

text: More than one race

text: Female

text: ND21743 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Neurofibromatosis type i

text: 31 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Multiple cervical nerve root neurofibromas;1 peripheral neurofibroma;macrocephaly;Lisch nodules;no cafe au lait spots or freckling;de novo insertion of an Alu repetitive element close to exon 6 of NF1 gene leading to abnormal gene splicing

characteristic: gene

text: ALU INS

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Neurofibromatosis type i

text: GM11601 male affected Neurofibromatosis type i sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND21744 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: Neurofibromatosis type i

text: 11 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Multiple cafe au lait spots;axillary freckling;acute lymphocytic leukemia in remission;deletion of a single nucleotide in exon 28 of the NF1 gene 5010delG leading to a frameshift causing a premature stop codon just downstream ( thus this allele encodes a protein that is predicted to be truncated after 1646 amino acids;with the last 6 amino acids being incorrect)

characteristic: description

text: EX 28

text: 1-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: Neurofibromatosis type i

text: GM11602 female affected Neurofibromatosis type i sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND21745 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Glycogen storage disease ii

text: 5 MO

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Black/Caucasian;significant hypotonia and cardiomyopathy as evidenced by grossly abnormal CXR and EKG;< 2% of control fibroblast acid-alpha-1;4 glucosidase activity

text: Homo sapiens

text: Other

text: Male

text: Glycogen storage disease ii

text: GM11603 male affected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND21746 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Neuraminidase deficiency

text: 5 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hepatosplenomegaly;ascites;macrocephaly;developmental delay;hyperpigment on anterior abdominal wall;osteoporosis with flaring of distal ends of long bones;cortical atrophy;abnormal eye findings;<2% of control fibroblast alpha-neuraminidase activity;P6 at CCR

text: Homo sapiens

text: Other

text: Male

characteristic: sex

text: Neuraminidase deficiency

characteristic: tag

text: GM11604 male affected Neuraminidase deficiency sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND21749 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Leber-like optic atrophy

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Peripapillary microangiopathy;G>A base mutation at nucleotide 3460 (3460G>A) in the MTND1 NADH-ubiquinone oxidoreductase subunit 1 (ND1) mtDNA gene;the mutation converts an Ala to a Thr at codon 52 of the gene Ala52Thr (A52T) and abolishes an Aha II restriction site

characteristic: description

text: FINNISH

characteristic: ethnicity

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Leber-like optic atrophy

text: Familial optic atrophy type unknown

text: Complex i, subunit nd1

text: GM11605 female affected Leber-like optic atrophy sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND21750 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 22 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP29BE;freckling;numerous skin cancers including more than 50 basal cell carcinomas and multiple malignant melanomas;mental retardation;deafness;see GM11613 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: XPD

text: GM11612 male affected Xeroderma pigmentosum, complementation group d sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND21751 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP29BE;freckling;numerous skin cancers including more than 50 basal cell carcinomas and multiple malignant melanomas;mental retardation;deafness;see GM11612 Lymphoid

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: XPD

text: GM11613 male affected Xeroderma pigmentosum, complementation group d sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21755 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XPH130BE;clinically unaffected;1 affected son;see GM11615 Fibroblast

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: XPD

text: GM11614 female unaffected Xeroderma pigmentosum, complementation group d sample


text: Coriell

text: live

text: Generic

text: 41 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPH130BE;clinically unaffected;1 affected son;see GM11614 Lymphoid

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: XPD

text: GM11615 female unaffected Xeroderma pigmentosum, complementation group d sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21756 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: RET

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;oral mucosal neuromas;medullary thyroid carcinoma;bilateral pheochromocytoma;marphanoid body habitus;negative family history;donor subject has a T>C transition (ATG>ACG) in exon 16 of the RET gene resulting in the substitution of threonine for methionine at codon 918 Met918Thr (M918T)

text: RET

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: RET

text: Multiple endocrine neoplasia type iib

text: Ret protooncogene

text: GM11629 female affected RET sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Multiple endocrine neoplasia type i

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Deceased father and three sibslings are also affected;peptic ulcer disease and hyperparathyroidism;the donor subject carries a 5 bp insertion GCCCC at nucleotide 317 (codon 68) of the MEN1 gene (317ins5).

text: ENGLISH

characteristic: ethnicity

text: proband

text: NT 317

text: 5-BP INS

text: Homo sapiens

text: Black

characteristic: race

text: Male

characteristic: sex

text: Multiple endocrine neoplasia type i

text: GM11630 male affected Multiple endocrine neoplasia type i sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND21757 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Multiple endocrine neoplasia type i

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Deceased father & 3 sibs are also affected;hyperparathyroidism

characteristic: description

text: ENGLISH

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Multiple endocrine neoplasia type i

text: GM11631 female affected Multiple endocrine neoplasia type i sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21761 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21762 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Ichthyosis congenita

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin fibroblast culture;same pt as GM11633

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Ichthyosis congenita

text: Harlequin fetus type

text: GM11632 male affected Ichthyosis congenita sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21763 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Ichthyosis congenita

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Umbilical cord fibroblast culture;same pt as GM11632

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Ichthyosis congenita

characteristic: tag

text: Harlequin fetus type

text: GM11633 male affected Ichthyosis congenita sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21764 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Argininemia

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Elevated serum arginine level;<1% of control RBC arginase activity;severe neurologic impairment mostly involving ataxia;seizures;negative family history;on diet therapy

text: Homo sapiens

text: Black

text: Male

text: Argininemia

text: GM11634 male affected Argininemia sample


text: Coriell

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21765 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP26BE;freckling;numerous skin cancers including 3 melanomas & more than 50 basal cell carcinomas;severe eyelid involvement;pt has had a corneal transplant;no neurological abnormalities;see GM11636 Fibroblast

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: XPC

text: GM11635 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Progressive supranuclear palsy

text: 71 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND21766 male affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

text: 26 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: XP26BE;freckling;numerous skin cancers including 3 melanomas & more than 50 basal cell carcinomas;severe eyelid involvement;pt has had a corneal transplant;no neurological abnormalities;see GM11635 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: XPC

text: GM11636 female affected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND21767 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 19 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP24BE;freckling;atrophy;numerous skin cancers including 1 malignant melanoma & more than 100 basal cell carcinomas;no neurological abnormalities;see GM11638 Fibroblast;donor subject is a compound heterozygote: the maternal allele has an A>G transition at -2 in intron 5.1 of the XPC gene (IVS5.1-2A>G) resulting in an 83 bp insertion of intron 5.1 with a stop 34 codons downstream and the deletion of exon 5.2 with a stop 7 codons downstream;the paternal allele has a C>T transition at nucleotide 568 in exon 4 (568C>T) resulting in nonsense mutation at Arg155 Arg155Ter (R155X)

text: HUNGARIAN

characteristic: ethnicity

text: proband

text: XPC

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: XPC

text: GM11637 female affected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND21768 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 20 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP24BE;freckling;atrophy;numerous skin cancers including 1 malignant melanoma and more than 100 basal cell carcinomas;no neurological abnormalities;see GM11637 Lymphoid;donor subject is a compound heterozygote: the maternal allele has an A>G transition at -2 in intron 5.1 of the XPC gene (IVS5.1-2A>G) resulting in an 83 bp insertion of intron 5.1 with a stop 34 codons downstream and the deletion of exon 5.2 with a stop 7 codons downstream;the paternal allele has a C>T transition at nucleotide 568 in exon 4 (568C>T) resulting in nonsense mutation at Arg155 Arg155Ter (R155X)

characteristic: description

text: HUNGARIAN

text: proband

text: XPC

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: XPC

text: GM11638 female affected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 73 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Parkinson disease

text: ND21769 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XPH206BE;Hungarian;clinically unaffected;1 affected daughter (GM11637);donor subject has a C>T transition at nucleotide 568 in exon 4 (568C>T) resulting in nonsense mutation at Arg155 Arg155Ter (R155X)

text: HUNGARIAN

characteristic: ethnicity

text: father

text: XPC

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: XPC

text: GM11639 male unaffected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND21772 female unaffected Control sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Glucosidase acid alpha

text: 38 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Abnormal liver function tests;occasional charley-horse in legs during physical activity;morning headaches;intolerance to greasy foods;abdominal cyst;deficient fibroblast and WBC acid-alpha-1;4 glucosidase activity;donor subject is a compound heterozygote: allele one carries a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (IVS1-13T>G);the resulting alternatively spliced transcript has an in frame deletion of exon 2 which contains the initiation codon;allele two carries a deletion of exon 18

characteristic: description

text: ITALIAN

characteristic: family id

text: proband

text: GAA

text: T>G

text: Homo sapiens

text: Caucasian

text: Male

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM11661 male affected Glucosidase acid alpha sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND21774 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 4 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Weight & height <5th %ile;head circumference 50th %ile;upslanting & short palpebral fissures;hypertelorism;broad nose;small nostrils & chin;deep philtrum;protruding tongue;convoluted ears;subaortic stenosis;develop delay

text: 46;XY;del(10)(pter->q11.1::q22.2->qter).arr 10q11.22q22.2(48962457-75120713)x1;46;XY;del(10)(pter>q11.1::q22.1>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Copy number variation (cnv) reference panel

text: Chromosome deletion

text: GM11672 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND21775 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: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal

text: 46;XY;inv(20)(pter>p13::q11>p13:: q11>qter)

text: Homo sapiens

text: Caucasian

text: Male

text: Inverted chromosome

text: GM11675 male unaffected Inverted chromosome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21776 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 22 FW

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Type II;US exam showed all long bones >2 S.D. below mean for gest age;humerus & femur thickened & irregularly shaped;sm concave chest;severe micromelia;decreased ossif of fetal calvarium;nl & abnl type I procollagen mols;P1 at CCR

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM11677 male affected OSTEOGENESIS IMPERFECTA: AUTOSOMAL DOMINANT - 166200, 166210, 166220 or 166230 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

text: Tourette syndrome

text: ND21783 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Repeated miscarriages

text: 46;XY;t(7;19)(7pter>7q31.2::19q13.3> 19qter;19pter>19q13.3::7q31.2>7qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM11678 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: More than one race

text: Female

characteristic: tag

text: ND21785 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: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Type I;blue sclerae;broken bones;fibroblasts synthesize & secrete normal amounts of type III procollagen & half the normal amount of type I procollagen;both procollagen chains had normal electrophoretic mobilities

text: Homo sapiens

text: Caucasian

text: Male

text: GM11705 male affected OSTEOGENESIS IMPERFECTA: AUTOSOMAL DOMINANT - 166200, 166210, 166220 or 166230 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

text: Male

text: Tourette syndrome

text: ND21789 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Sandhoff disease

text: 7 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Progressive mental retardation;seizures;developmental regression of fine & gross motor skills;increased muscle tone;fibroblasts;WBC;& plasma show deficient hexosaminidase A & B activity

text: Homo sapiens

text: Caucasian

text: Male

text: Sandhoff disease

text: GM11707 male affected Sandhoff disease sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

text: Female

text: Tourette syndrome

text: ND21794 female affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: Hypomelanosis of ito

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Swirls of reticulated pigmentation on trunk;face;& extremities;developmental delay;tumors of orbit;maxilla;scalp;& knee;see GM11709 Fibroblast

characteristic: description

text: ECUADORIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Hypomelanosis of ito

text: HMI

text: GM11708 male affected Hypomelanosis of ito sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: More than one race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND21795 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Hypomelanosis of ito

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Swirls of reticulated pigmentation on trunk;face;& extremities;developmental delay;tumors of orbit;maxilla;scalp;& knee;see GM11708 Lymphoid

text: ECUADORIAN

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Hypomelanosis of ito

characteristic: tag

text: HMI

text: GM11709 male affected Hypomelanosis of ito sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected parent of an affected child;heterozygous for TRP1282TER (W1282X) mutation;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 5T/7T;proband not in repository

text: JEWISH

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Human gene mutation panel - cystic fibrosis (version 2)

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM11723 female unaffected CF sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21798 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Glycogen storage disease ii

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;progressive muscle weakness;acid alpha-1;4-glucosidase deficiency;donor subject is a compound heterozygote: one allele has a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (c.-32-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon;exon 2;the second allele has a C>T transition at nucleotide 1880 (c.1880C>T) resulting in the substitution of phenylalanine for serine at codon 627 Ser627Phe (S627F)

characteristic: description

text: GAA

text: T>G

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Glycogen storage disease ii

text: GM11759 female affected Glycogen storage disease ii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinsonism, other

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Progressive supranuclear palsy

characteristic: tag

text: Parkinsonism, other

text: ND21799 male affected Parkinsonism, other sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: CF

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected with mild pulmonary disease;GLY551ASP (G551D)/ARG553TER (R553X) mutations

text: CFTR

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM11761 male affected CF sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 30 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Despite well documented adequate dietary management since birth;suffers from severe neurologic complications;sim affec bro;mRNA & CRM pos;GALT gene mutations: A to G transition at nucleotide 591 (591A>G) Gln188Arg (Q188R) & C to T transition at nucleotide 1025 (1025C>T) Arg333Trp (R333W)

characteristic: family id

text: proband

text: GALT

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: GALT

text: Galactosemia

text: GM11763 male affected Galactose-1-phosphate uridylyltransferase sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 72 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND21800 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 53 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Two children with classic galactosemia;clinically unaffected;heterozygous for Gln188Arg (Q188R) mutation in the GALT gene: A to G transition at nucleotide 591 (591A>G) which substitutes arginine for glutamine

characteristic: description

text: mother

text: GALT

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: GALT

text: Galactosemia

text: GM11764 female unaffected Galactose-1-phosphate uridylyltransferase sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother & maternal grandmother have the same balanced translocation;phenotypically normal with recurrent miscarriages

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM11771 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21801 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Wilson disease

text: 15 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Saudi Arabian;high serum copper & low ceruloplasmin;received penicillamine treatment;2 similarly affected brothers have received liver transplants

text: SAUDI ARABIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Wilson disease

text: GM11778 male affected Wilson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND21802 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Only affected amongst triplets;a paternal cousin is also affected;at birth;severely virilized & elevated 17-hydroxy-progesterone;46;XX in PBL;pt doing well on hydrocortisone;donor subject is homozygous for an A>G or C>G change at position -2 in the acceptor splice site of intron 2 resulting in an aberrant splice site being activated 7 bases upstream of the mutation in the CYP21A2 gene IVS2-13A/C>G

characteristic: description

characteristic: gene

text: A/C>G

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: GM11781 female affected Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 13 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND21807 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Saudi Arabian;clinically unaffected;3 affected sons;affected son is GM11778 Fibroblast

text: SAUDI ARABIAN

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Wilson disease

text: GM11811 male unaffected Wilson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: aunt

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND21808 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Sponastrime dysplasia

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Short long bones;frontal bossing;short nose with depressed nasal bridge & anteverted nares;mild rhizomelia;mild dysplastic changes in both appendicular & axial skeleton;micropenis;similarly affected brother;46;XY

characteristic: description

text: GERMAN

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Sponastrime dysplasia

text: GM11813 male affected Sponastrime dysplasia sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21809 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;2 affected children

text: GERMAN

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Sponastrime dysplasia

characteristic: tag

text: GM11814 female unaffected Sponastrime dysplasia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21810 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 19 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type II;fetal ultrasound showed severe short-limbed dwarfism;x-ray exam showed multiple fractures & very short limbs;46;XX in cultured amniocytes;cells synthesize & secrete normal & abnormal type I procollagen molecules

text: Homo sapiens

text: Caucasian

text: Female

text: GM11816 female affected OSTEOGENESIS IMPERFECTA: AUTOSOMAL DOMINANT - 166200, 166210, 166220 or 166230 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21811 female affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Ceph/utah pedigree 1331

text: GM11818 female unaffected Ceph/utah pedigree 1331 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21812 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

text: UTAH/MORMON

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1331

characteristic: tag

text: GM11819 male unaffected Ceph/utah pedigree 1331 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 13 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21813 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1333

text: GM11820 female unaffected Ceph/utah pedigree 1333 sample


text: Coriell

text: live

text: Generic

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister-in-law

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND21815 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1340

text: GM11821 male unaffected Ceph/utah pedigree 1340 sample


text: Coriell

text: live

text: Generic

text: 67 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND21817 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1350

characteristic: tag

text: GM11822 male unaffected Ceph/utah pedigree 1350 sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Progressive supranuclear palsy

text: 69 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND21818 male affected Progressive supranuclear palsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1350

text: GM11824 female unaffected Ceph/utah pedigree 1350 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 80 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND21819 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1350

text: GM11825 female unaffected Ceph/utah pedigree 1350 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive supranuclear palsy

text: 70 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND21820 female affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1350

characteristic: tag

text: GM11826 female unaffected Ceph/utah pedigree 1350 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND21821 male affected Progressive supranuclear palsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1350

text: GM11827 female unaffected Ceph/utah pedigree 1350 sample


text: Coriell

text: live

text: Generic

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND21822 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1350

text: GM11828 female unaffected Ceph/utah pedigree 1350 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 64 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND21825 female affected Parkinson disease sample


characteristic: Coriell plate

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Utah Residents (CEPH) with Northern and Western European ancestry

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Paternal Grandfather;donor subject is homozygous for a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream;resulting in a truncated;nonfunctional protein. Because of the aberrant splice site;a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682);resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region.

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

text: International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe

characteristic: tag

text: Coriell GM11829


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND21830 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: Population Description

text: EUR

text: European

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Paternal Grandmother

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: paternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

text: female

text: Coriell GM11830


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 46 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: ND21831 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandfather

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: male

characteristic: sex

text: Coriell GM11831

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 10 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21832 male affected Tourette syndrome sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother;donor subject is heterozygous for an A>C change at nucleotide 1061 (1061A>C) in exon 7 of the CYP2C9 gene (CYP2C9*3) which results in a substitution of leucine for isoleucine at codon 359 Ile359Leu (I359L);donor subject has a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream;resulting in a truncated;nonfunctional protein. Because of the aberrant splice site;a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682);resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region.

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: maternal grandmother

text: Homo sapiens

characteristic: organism

text: CEU

text: Caucasian

text: female

characteristic: tag

text: Coriell GM11832


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND21833 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

text: UTAH/MORMON

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1349

text: GM11833 female unaffected Ceph/utah pedigree 1349 sample


text: Coriell

text: live

text: Generic

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND21834 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1349

characteristic: tag

text: GM11834 male unaffected Ceph/utah pedigree 1349 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21835 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Ceph/utah pedigree 1349

text: GM11835 female unaffected Ceph/utah pedigree 1349 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 62 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND21849 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

text: UTAH/MORMON

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1349

text: GM11836 female unaffected Ceph/utah pedigree 1349 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND21850 female unaffected Control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1349

characteristic: tag

text: GM11837 female unaffected Ceph/utah pedigree 1349 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND21869 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Ceph/utah pedigree 1349

text: GM11838 male unaffected Ceph/utah pedigree 1349 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandfather;donor subject is heterozygous for an A>C change at nucleotide 1061 (1061A>C) in exon 7 of the CYP2C9 gene (CYP2C9*3) which results in a substitution of leucine for isoleucine at codon 359 Ile359Leu (I359L)

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1349

text: Cytochrome p450, subfamily iic, polypeptide 19

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

text: International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe

text: GM11839 male unaffected Cytochrome p450, subfamily iic, polypeptide 9 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 80 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinson disease

text: ND21870 female affected Parkinson disease sample


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Utah Residents (CEPH) with Northern and Western European ancestry

characteristic: Population Description

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandmother

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: maternal grandmother

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: female

characteristic: tag

text: Coriell GM11840


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Ceph/utah pedigree 1349

text: GM11841 male unaffected Ceph/utah pedigree 1349 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 9 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND21873 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1349

characteristic: tag

text: GM11842 female unaffected Ceph/utah pedigree 1349 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21877 female affected Tourette syndrome sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Paternal Grandfather

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

text: Coriell GM11843


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Glycogen storage disease ii

text: 7 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Hypertrophic;nonobstructive cardiomyopathy;proximal and distal muscle weakness;hepatomegaly;developmental and growth delay;deficient fibroblast acid-alpha-1;4 glucosidase activity;passage 2 at CCR

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Glycogen storage disease ii

characteristic: tag

text: GM11849 male affected Glycogen storage disease ii sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21878 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Sialic acid storage disease

text: 5 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;tremor;titubation;microcephaly;broad-based gait;thin corpus callosum & delayed myelination;incr sialic acid in urine;elev bound & free sialic acid in fibroblasts;EM exam pos for lysosomal storage dis;P2 at CCR

text: Homo sapiens

text: Caucasian

text: Female

text: SIASD

text: Sialic acid storage disease

text: GM11850 female affected Sialic acid storage disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Wolman disease

text: 4 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Failure to thrive;developmental delay;adrenal calcifications;hepatomegaly;deficient WBC & fibroblast lysosomal acid lipase activity

text: Homo sapiens

text: Caucasian

text: Female

text: Wolman disease

text: GM11851 female affected Wolman disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21879 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: TSD

text: 1 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Ashkenazi;bilateral cherry-red spots;behavioral problems;progressive encephalopathy;deficient hexosaminidase A activity in blood;donor subject is homozygous for a 4 base pair insertion in exon 11 of the HEXA gene 1278_1279insTATC resulting in a premature termination signal;see GM11853 Fibroblast.

characteristic: description

text: ASHKENAZI

characteristic: ethnicity

text: proband

text: HEXA

characteristic: gene

characteristic: mutation

text: 4-BP INS

text: Homo sapiens

text: Caucasian

text: Male

text: Tay-sachs disease

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM11852 male affected TSD sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: TSD

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;bilateral cherry-red spots;behavioral problems;progressive encephalopathy;deficient hexosaminidase A activity in blood;homozygous for the 4 base pair insertion in exon 11;see GM11852 Lymphoid

text: ASHKENAZI

text: proband

text: HEXA

text: 4-BP INS

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tay-sachs disease

characteristic: tag

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM11853 male affected TSD sample

characteristic: title