text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND26072 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


status: PUBLIC

tag: attribute

characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Born in Vsetin;all four grandparents were born in Czechoslovakia

characteristic: description

text: CZECH

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Czechoslovakian population

characteristic: tag

text: Human variation panel - czechoslovakian

text: GM15733 female unaffected Czechoslovakian population sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND26079 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Trichothiodystrophy

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: TTD-A complementation group. Ichthyotic skin;nonbullous ichthyosiform erythroderma;collodion membranes at birth;brittle hair;photosensitivity;short stature;physical retardation;mild mental retardation;cataracts;asthma;joint contract;recurrent infection;25% of normal nucleotide excision-repair. Gene not yet cloned;but gene product is not a member of the TFIIH complex. TFIIH complex present in reduced amounts.

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Trichothiodystrophy

text: Ttd ichthyosiform erythroderma with hair abnormality and mental and growth retardation included

text: GM15751 male affected Trichothiodystrophy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: African American

text: Male

text: ND26080 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 4 MO

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Brittle hair & nails;short stature;physical & mental retardation;nucleotide excision repair 40% of normal;18 bp deletion at nucleotides 1540_1557 in ERCC2 gene resulting in in-frame loss of codons 488_493

characteristic: gene

text: 18 bp deletion (1540-1557

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Trichothiodystrophy

text: Excision-repair: complementing defective in chinese hamster 2

text: GM15752 female affected Ttd ichthyosiform erythroderma with hair abnormality and mental and growth retardation included sample


text: Coriell

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister-in-law

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND26081 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 2 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Cpd heterozygote;one allele carries a C>T transition at nucleotide 2242 resulting in Arg722Trp (R722W);2nd allele carries G>C transversion at nucleotide 1925 resulting in Arg616Pro (R616P) in the ERCC2 gene

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Trichothiodystrophy

text: GM15753 male affected Ttd ichthyosiform erythroderma with hair abnormality and mental and growth retardation included sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: More than one race

text: Male

text: ND26085 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Contains +T insertion in the splice donor site of intron 15 of paternal allele leading to loss of codons in the ERCC2 protein;G>A transition in mat allele resulting in Arg112His (R112H) in the ERCC2 gene

text: +T insertion (splice donor site of intron 15)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Trichothiodystrophy

text: GM15754 female affected Ttd ichthyosiform erythroderma with hair abnormality and mental and growth retardation included sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 33 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: More than one race

text: Female

text: ND26086 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: From Reykjavic;all four grandparents were Icelandic

text: ICELANDIC

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Icelandic population

text: Human variation panel - iceland

text: GM15755 male unaffected Human variation panel - iceland sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 1 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Father;Paternal & Maternal Grandparents: Mexico

text: proband

text: Homo sapiens

text: Other

text: Female

text: Epilepsy

characteristic: tag

text: ND26087 female affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: ICELANDIC

text: Homo sapiens

text: Caucasian

text: Male

text: Icelandic population

text: Human variation panel - iceland

text: GM15756 male unaffected Human variation panel - iceland sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 16 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND26089 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 27 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: ICELANDIC

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Icelandic population

text: Human variation panel - iceland

text: GM15757 male unaffected Human variation panel - iceland sample


text: Coriell

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND26090 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

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: ICELANDIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Icelandic population

text: Human variation panel - iceland

text: GM15758 male unaffected Human variation panel - iceland sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND26091 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: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: ICELANDIC

text: Homo sapiens

text: Caucasian

text: Male

text: Icelandic population

text: Human variation panel - iceland

text: GM15759 male unaffected Human variation panel - iceland sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 13 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND26092 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 30 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: ICELANDIC

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Icelandic population

text: Human variation panel - iceland

text: GM15760 male unaffected Human variation panel - iceland sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND26093 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: ICELANDIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Icelandic population

text: Human variation panel - iceland

text: GM15761 female unaffected Human variation panel - iceland sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND26094 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: ICELANDIC

text: Homo sapiens

text: Caucasian

text: Female

text: Icelandic population

text: Human variation panel - iceland

text: GM15762 female unaffected Human variation panel - iceland sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 46 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND26095 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: From Reykjavic;all four grandparents were Icelandic

text: ICELANDIC

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Icelandic population

text: Human variation panel - iceland

text: GM15763 female unaffected Human variation panel - iceland sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi jewish (mother and father)

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND26097 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: ICELANDIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Icelandic population

characteristic: tag

text: Human variation panel - iceland

text: GM15764 female unaffected Human variation panel - iceland sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish;Sephardic

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND26098 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: ICELANDIC

text: Homo sapiens

text: Caucasian

text: Female

text: Icelandic population

text: Human variation panel - iceland

text: GM15765 female unaffected Human variation panel - iceland sample


text: Coriell

text: live

text: Generic

text: 48 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Both parents Ashkenazi Jewish

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND26099 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: ICELANDIC

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Icelandic population

text: Human variation panel - iceland

text: GM15766 female unaffected Human variation panel - iceland sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: 1/2 swedish (maternal side)

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND26101 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: AT

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line AT9RM;ataxia;bulbar telangiectasias;recurrent sinopulmonary infections during infancy;ocular apraxia;nystagmus;intermed radiosensitiv;spontaneous chromosome breakage in 13% of PBL;brother is also affected;elevated AFP;homozygous for the ATM gene mutation 9139C>T in exon 65 Arg3047Ter (R3047X)

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM15785 female affected AT sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND26112 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: AT

text: 19 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Cerebellar ataxia;apraxia;no sinopulmonary infections;choreoathetosis;mutation in the ATM gene is 3403del174;resulting in the skipping of exon 26

characteristic: description

text: ATM

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM15786 female affected AT sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: CAUCASIAN AND INDIAN

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

text: Tourette syndrome

text: ND26113 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;maternal grandmother of GM15789;heterozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218 657-661delACAAA (657del5)

text: CZECH

text: maternal grandmother

text: 5-BP DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15788 female unaffected Nijmegen breakage syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Female

characteristic: tag

text: ND26119 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 10 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;brother of GM15789;heterozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218

text: CZECH

text: brother

characteristic: gene

text: 5-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15790 male unaffected Nijmegen breakage syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND26120 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: Obligate heterozygote;affected children are GM15808 and GM15809;heterozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218 657-661delACAAA (657del5)

characteristic: description

text: POLISH

characteristic: ethnicity

characteristic: family id

text: mother

text: 5-BP DEL

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15805 female unaffected Nijmegen breakage syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 2 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

text: ND26121 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 27 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: POLISH

text: father

text: 5-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15806 male unaffected Nijmegen breakage syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive supranuclear palsy

text: 64 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND26126 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;affected siblings are GM15808 and GM15809;heterozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218 657-661delACAAA (657del5)

characteristic: description

text: POLISH

text: sister

characteristic: gene

text: 5-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15807 female unaffected Nijmegen breakage syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND26127 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Nijmegen breakage syndrome

text: 5 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;birth weight 2;510 grams;birth length 50 cm;head circumference at birth 29 cm;severe microcephaly;characteristic facial features including receding forehead;prominent midface;receding mandible;upslanting palpebral fissures;and large ears with dysplastic helices;severe growth retardation;moderate mental retardation;subtle conjunctival telangiectasia;recurrent respiratory tract infections;bronchiectasis and otitis media;repeated episodes of diarrhea;increased chromosome breaks with 30% of cells with structural abnormality;extremely low IgG concentration with four IgG subclasses decreased;decreased IgA concentration;moderately decreased IgM level;homozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218 657-661delACAAA (657del5);affected sister is GM15809;mother is GM15805;father is GM15806;unaffected sister is GM15807.

text: POLISH

characteristic: ethnicity

text: proband

text: 5-BP DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15808 male affected Nijmegen breakage syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: African American

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: Ninds african american population control plate

text: ND26128 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Nijmegen breakage syndrome

text: 3 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;microcephaly;characteristic craniofacial appearance;growth retardation;mild mental retardation;vitiligo;no severe infections;increased chromosome breaks;homozygous for deletion of 5 bp at nucleotide 657 in exon 6 of NBS1 gene which results in a premature termination at codon 218 657-661delACAAA (657del5);affected brother is GM15808;mother is GM15805;father is GM15806;unaffected sister is GM15807.

characteristic: description

text: POLISH

text: sister

characteristic: gene

text: 5-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15809 female affected Nijmegen breakage syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: African American

text: Female

text: Control

text: Population/convenience control

text: ND26129 female unaffected Control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Obligate heterozygote;affected children are GM15812 and GM15814;heterozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218 657-661delACAAA (657del5)

text: POLISH

characteristic: ethnicity

text: mother

text: 5-BP DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15810 female unaffected Nijmegen breakage syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND26131 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: description

text: POLISH

text: father

characteristic: gene

text: 5-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15811 male unaffected Nijmegen breakage syndrome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND26135 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Nijmegen breakage syndrome

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;birth weight 2300 grams;birth length 50 cm;head circumference at birth 33 cm;characteristic craniofacial features including receding forehead;prominent midface;receding mandible;upslanting palpebral fissures;and large ears with dysplastic helices;stunted growth;mental retardation;several bronchopneumonias;increased chromosome breaks with 45.3% of cells with structural abnormality;IgG1;IgG2;and IgG4 deficiency;homozygous for del of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene resulting in a premature termination at codon 218 657-661delACAAA (657del5);affected brother is GM15814;mother is GM15810;father is GM15811;unaffected sister is GM15813.

text: POLISH

characteristic: ethnicity

characteristic: family id

text: proband

text: 5-BP DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15812 male affected Nijmegen breakage syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish (maternal and paternal sides)

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND26136 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 15 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;affected siblings are GM15812 and GM15814;heterozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218 657-661delACAAA (657del5)

characteristic: description

text: POLISH

text: sister

text: 5-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15813 female unaffected Nijmegen breakage syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND26143 male affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

text: Nijmegen breakage syndrome

text: 12 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;birth weight 2600 grams;birth length 51 cm;head circumference at birth 31 cm;microcephaly;characteristic craniofacial features including receding forehead;prominent midface;receding mandible;upslanting palpebral fissures;and large ears with dysplastic helices;stunted growth;vitiligo;mental retardation;no severe infections;increased chromosome breaks with 32.7% of cells showing structural abnormality;IgG1;IgG2;and IgG4 deficiency;decreased IgA concentration;moderately decreased IgM level;homozygous for del of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene resulting in a premature termination at codon 218 657-661delACAAA (657del5);affected brother is GM15812;mother is GM15810;father is GM15811;unaffected sister is GM15813.

text: POLISH

characteristic: ethnicity

characteristic: family id

text: brother

characteristic: gene

text: 5-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15814 male affected Nijmegen breakage syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND26144 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Obligate heterozygote;diabetic;affected children are GM15818 and GM15819;heterozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218 657-661delACAAA (657del5)

characteristic: description

text: POLISH

text: mother

text: 5-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15815 female unaffected Nijmegen breakage syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND26149 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Obligate heterozygote;deceased;affected children are GM15818 and GM15819;heterozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218 657-661delACAAA (657del5)

text: POLISH

characteristic: ethnicity

characteristic: family id

text: father

characteristic: gene

text: 5-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15816 male unaffected Nijmegen breakage syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 3 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: White/Caucasian | Black/African American

text: sibling

text: Homo sapiens

text: More than one race

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND26163 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;affected siblings are GM15818 and GM15819

characteristic: description

text: POLISH

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Nijmegen breakage syndrome

text: GM15817 female unaffected Nijmegen breakage syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 5 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

text: Epilepsy

text: ND26164 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Nijmegen breakage syndrome

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;birth weight 3;050 grams;birth length 47 cm;head circumference at birth 30 cm;microcephaly;characteristic craniofacial appearance including receding forehead;prominent midface;receding mandible;upslanting palpebral fissures;and large ears with dysplastic helices;mild mental retardation;vitiligo;subtle conjunctival telangiectasia;no severe infections;increased chromosome breaks with 24% of cells with structural abnormality;IgG2 and IgG4 deficiency;homozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene resulting in a premature termination at codon 218 657-661delACAAA (657del5);affected brother is GM15819;mother is GM15815;father is GM15816;unaffected sister is GM15817.

text: POLISH

characteristic: ethnicity

characteristic: family id

text: proband

characteristic: gene

text: 5-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15818 female affected Nijmegen breakage syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND26201 male affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Nijmegen breakage syndrome

text: 1 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;birth weight 3;800 grams;birth length 57 cm;head circumference at birth 33 cm;microcephaly;characteristic craniofacial features including receding forehead;prominent midface;receding mandible;upslanting palpebral fissures;and large ears with dysplastic helices;growth retardation;borderline intelligence;no severe infections;increased chromosome breaks with 22.2% of cells with structural abnormality;IgG3 and IgG4 deficiency;homozygous for del of 5 bp at nucleotide 657 in exon 6 of NBS1 gene resulting in a premature termination at codon 218 657-661delACAAA (657del5);affected sister is GM15818;mother is GM15815;father is GM15816;unaffected sister is GM15817.

characteristic: description

text: POLISH

text: brother

text: 5-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15819 male affected Nijmegen breakage syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Tourette syndrome

text: ND26202 female unaffected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Obligate heterozygote;2 affected children;proband not in the Repository;heterozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218 657-661delACAAA (657del5)

text: POLISH

characteristic: ethnicity

characteristic: family id

text: mother

characteristic: gene

text: 5-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15820 female unaffected Nijmegen breakage syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 9 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND26203 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Obligate heterozygote;2 affected children;proband is not in the Repository;heterozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218 657-661delACAAA (657del5)

characteristic: description

text: POLISH

text: father

text: 5-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15821 male unaffected Nijmegen breakage syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 20 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND26218 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;two affected brothers;proband is not in the Repository;heterozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218 657-661delACAAA (657del5)

text: POLISH

characteristic: ethnicity

characteristic: family id

text: sister

characteristic: gene

text: 5-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15822 female unaffected Nijmegen breakage syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 1 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND26250 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 15 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: description

text: POLISH

text: sister

text: 5-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15823 female unaffected Nijmegen breakage syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 9 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND26256 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;two affected brothers;proband is not in the Repository

text: POLISH

characteristic: ethnicity

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Nijmegen breakage syndrome

text: GM15825 male unaffected Nijmegen breakage syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 33 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND26257 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Lesch-nyhan syndrome

text: 5 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clone of line LN-SV (GM00847;SV40 transformed GM02063);G6PD type A;> 95% of cells are T-antigen positive;HPRT deficient;2 affected brothers;passage 4 after crisis at CCR

text: maternal cousin

text: Homo sapiens

text: Black

text: Male

text: LNS

text: Lesch-nyhan syndrome

text: GM15836 male affected Lesch-nyhan syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND26258 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Obligate heterozygote;affected son is GM15789;heterozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218

characteristic: description

text: CZECH

text: father

characteristic: gene

text: 5-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15841 male unaffected Nijmegen breakage syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 6 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND26259 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 23 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;heterozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218

text: CZECH

characteristic: ethnicity

characteristic: family id

text: maternal cousin

text: 5-BP DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15842 male unaffected Nijmegen breakage syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 21 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND26260 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;normal examination with no complaints;brother recently died of diffuse Lewy body disease;affected mother;affected maternal uncle and aunt;affected cousins are GM15009 and GM15010;molecular characterization of this family found evidence consistent with whole gene triplication with the triplicated region containing an estimated 17 genes;including SNCA;carriers of the triplication are predicted to have 4 fully functional copies of SNCA;the increased dosage of SNCA suggested as the cause of PD in this family;this sample was formerly classified as PARK4 605543;this sample is also included in the NINDS Repository (ND00139) with additional family members

characteristic: description

text: proband

text: SNCA

text: TRIPLICATION

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease familial type 1

text: Synuclein alpha

text: SNCA

text: GM15844 female unaffected SNCA sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 28 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Asian

text: Male

text: Control

text: Population/convenience control

text: ND26264 male unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;normal examination with no complaints;three siblings died of Parkinson disease with onset at 25-45 years;one daughter with essential tremor;affected nephew is GM15009 and affected nieces are GM15010 and GM15844;molecular characterization of this family found evidence consistent with whole gene triplication with the triplicated region containing an estimated 17 genes;including SNCA;carriers of the triplication are predicted to have 4 fully functional copies of SNCA;the increased dosage of SNCA suggested as the cause of PD in this family;this sample was formerly classified as PARK4 605543;this sample is also included in the NINDS Repository (ND27756) with additional family members

text: aunt

text: SNCA

characteristic: gene

text: TRIPLICATION

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinson disease familial type 1

text: Synuclein alpha

text: SNCA

text: GM15845 female unaffected SNCA sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND26273 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected carrier;father of one affected child (GM15850);a carrier (GM15849);& one normal child (GM15851);donor subject has one allele with GAA triplet repeat expansions of 830 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

text: CAJUN

characteristic: ethnicity

text: father

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Frataxin

characteristic: tag

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM15848 male unaffected FRDA sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON ASHKENAZI JEWISH

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND26305 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: 10 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected carrier;mild cerebral palsy and hemiparesis;brother of GM15850 and GM15851;donor subject has one allele with GAA triplet repeat expansion of 920 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

characteristic: description

text: brother

text: FXN

characteristic: gene

text: (GAA)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM15849 male unaffected FRDA sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 51 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: NON-ASHKENAZI JEWISH (RUSSIAN)

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND26306 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: FRDA

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;ataxia;scoliosis;hypertrophic cardiomyopathy;slurred speech;brother of GM15849 and GM15851;son of GM15847 and GM15848;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 650 and 1030 repeats.

text: proband

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Frataxin

characteristic: tag

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM15850 male affected FRDA sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-ASHKENAZI JEWISH (RUSSIAN)

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND26307 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 14 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;brother of an affected individual (GM15850);has two FRDA alleles in the normal range of GAA trinucleotide repeats.

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: FRDA

text: Friedreich ataxia 1

text: GM15851 male unaffected Friedreich ataxia 1 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 13 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: NON-ASHKENAZI JEWISH (RUSSIAN)

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND26308 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: SV40-transformed GM07213 Fibroblast 46;X;dic(X)(pter>q28::q28>pter);Culture established from ovarian biopsy;small infantile uterus and cervix;undergoing chemotherapy for previous malignancy;dic(X) is late labelling

text: proband

text: 44-49;X;dic(X)(pter>q28::q28>pter);+markers cp10

characteristic: karyotype

text: Homo sapiens

text: Black

characteristic: race

text: Female

characteristic: sex

text: Dicentric chromosome

text: GM15859 female unaffected Dicentric chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND26319 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;myopia;2 affected sons (GM15861 & GM15863) and affected spouse (GM15864);see GM15869 Fibroblast

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: GM15860 male unaffected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND26320 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 13 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clin affected;joint hypermobility;pes planus;fragile loose velvety skin;bruisability;cigarette-paper scars;keloids;premature rupture of fetal membranes;neonatal floppiness;aff bro (GM15863) & aff mother (GM15864)

characteristic: description

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: GM15861 male affected Ehlers-danlos syndrome: type unclassified sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

characteristic: organism

text: More than one race

text: Female

text: ND26321 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected brothers are GM15861 & GM15863;affected mother is GM15864;see GM15871 Fibroblast

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: GM15862 male unaffected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 27 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND26322 female affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clin affected;joint hypermobility;pes planus;sml mandible;keloids;translucent loose velvety skin;cigarettepaper scars;myopia;premature rupture of fetal membranes;neonatal floppiness;aff bro & aff mother (GM15861 & GM15864)

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: GM15863 male affected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

text: AshJ on mother

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND26328 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clin affected;joint hypermobility;pes planus;short stature;keloids;hyperextensible translucent loose velvety skin;cigarette-paper scars;bruisability;2 affected sons are GM15861 & GM15863;see GM15873 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM15864 female affected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Homo sapiens

text: Asian

text: Male

text: Control

text: Population/convenience control

text: ND26330 male unaffected Control sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;myopia;2 affected sons (GM15870 & GM15872) and affected spouse (GM15873);see GM15860 Lymphoid

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: GM15869 male unaffected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND26332 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;joint hypermobility;pes planus;fragile loose velvety skin;bruisability;cigarette-paper scars;keloids;premature rupture of fetal membranes;neonatal floppiness;aff bro (GM15872) & aff mother (GM15873)

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM15870 male affected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: ND26334 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected brothers are GM15870 and GM15872;affected mother is GM15873;see GM15862 Lymphoid

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM15871 male unaffected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND26335 female affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

text: 17 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clin affected;joint hypermobility;pes planus;small mandible;keloids;translucent loose velvety skin;cigarette paper scars;myopia;premature rupture of fetal membranes;neonatal floppiness;aff bro & aff mother (GM15870 & GM15873)

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: GM15872 male affected Ehlers-danlos syndrome: type unclassified sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: 1/4 Arabic (Lebanese) (paternal side)

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND26348 female affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clin affected;joint hypermobility;pes planus;short stature;keloids;hyperextensible translucent loose velvety skin;cigarette-paper scars;bruisability;2 affected sons are GM15870 & GM15872;see GM15864 Lymphoid

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM15873 female affected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: 1/2 Arabic (Lebanese) -maternal side

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND26349 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: The cell line (also known as XP20S-pCAH19WS) is a derivative of the SV40 Transformed and immortalized xeroderma pigmentosum complementation group A fibroblast XP20S (GM04312);which was subsequently transfected with the full length cDNA of the XPAC gene to correct the abnormal phenotype;GM15876A shows normal UV sensitivity;judged by survival of UV damaged Shuttle vector plasmid;restoration of transcription of a UV damaged CAT expression vector;and by a return to the normal spectrum of shuttle vector mutations found in control cells (Levy et al;Carcinogenesis 16:1557-63;1995);the full length XPAC cDNA is stably expressed using the cytomegalovirus enhancer and chicken B-actin promoter (Miyamoto et al;J Biol Chem 267:12182-87;1992);and the XPA protein in GM15876A is over expressed by a factor of 14 compared with the normal;repair-competent SV40 Transformed GM00637 (Levy et al;Carcinogenesis 16:15757-63;1995);the corrected phenotype of GM15876A is stable;selection for the XPAC gene is not required

text: proband

text: Homo sapiens

text: Asian

text: Female

characteristic: sex

text: XPA

text: GM15876 female affected Xeroderma pigmentosum, complementation group a sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND26350 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: XPD

text: 19 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: The cell line (also known as D6BE-ER2-9) is a derivative of the SV40 Transformed immortalized version of the primary xeroderma pigmentosum fibroblast complementation group D fibroblast GM08207 (XP6BE);which was subsequently transfected with p2E-ER2;a complementary DNA expression construct of the ERCC2 (XPD) gene;to correct the abnormal phenotype;GM15877 shows normal cellular resistance to UV irradiation;normal DNA repair of damaged shuttle vector plasmid and restoration of transcription of a UV damaged CAT expression vector;the XPD protein expression is about 18 fold greater than in the SV40 Transformed parent ( Gozukara et al;Cancer Res;54:3837-44;1994);the corrected phenotype of GM15877 requires selection with 0.6mg/ml of Geneticin (G418)

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Xeroderma pigmentosum, complementation group d

text: XPD

text: Excision-repair: complementing defective in chinese hamster 2

text: GM15877 female affected XPD sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND26353 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Ectodermal dysplasia 1, anhidrotic

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Hypomelanosis of Ito;clinically affected;hypotrichosis;swirls of hypopigmented skin;anhydrosis;fine;silky hair;absent teeth and small pointed incisors;saddle-nose;variable mental retardation;short stature

characteristic: description

text: 46;X;t(X;13)(Xpter>Xq13::13p11.2>13pter;13qter>13p11.2::Xq13>Xqter).ish t(X;13)(DXZ1+;D13Z1-;DXZ1-;D13Z1+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Ectodermal dysplasia 1, anhidrotic

text: Translocated chromosome

text: GM15879 female affected Ectodermal dysplasia 1, anhidrotic sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND26354 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Nodal rhythm

text: 74 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 2 episodes of atrial fibrillation;bradycardia;father;uncle;brother;nephew and cousin all have hx of atrial fibrillation;grade 3/6 diastolic murmur from from rheumatic fever at age 16;borderline cardiomegaly;aff bro is GM16003

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Nodal rhythm

text: GM15880 male affected Nodal rhythm sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND26355 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 37 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Basque;all four grandparents are Basque

text: BASQUE

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Human variation panel - basque

text: Basque population

text: GM15883 female unaffected Basque population sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 7 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

characteristic: tag

text: ND26356 female affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Basque;all four grandparents are Basque

characteristic: description

text: BASQUE

text: Homo sapiens

text: Caucasian

text: Male

text: Human variation panel - basque

text: Basque population

text: GM15884 male unaffected Basque population sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND26357 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Basque;all four grandparents are Basque

text: BASQUE

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Human variation panel - basque

text: Basque population

text: GM15885 male unaffected Basque population sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND26358 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 27 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Basque;all four grandparents are Basque

text: BASQUE

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Human variation panel - basque

text: Basque population

text: GM15886 female unaffected Basque population sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND26360 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Basque;all four grandparents are Basque

characteristic: description

text: BASQUE

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Human variation panel - basque

text: Basque population

text: GM15887 female unaffected Basque population sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: More than one race

text: Male

text: ND26361 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: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Iberian;from Galicia

text: IBERIAN

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Iberian population

text: GM15888 female unaffected Iberian population sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND26362 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Iberian;from Galicia

text: IBERIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Iberian population

text: GM15889 male unaffected Iberian population sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND26363 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Iberian;from Galicia

characteristic: description

text: IBERIAN

text: Homo sapiens

text: Caucasian

text: Female

text: Iberian population

text: GM15890 female unaffected Iberian population sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

text: ND26364 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: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Iberian;from Galicia

text: IBERIAN

text: Homo sapiens

text: Caucasian

text: Female

text: Iberian population

text: GM15891 female unaffected Iberian population sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: African American

characteristic: race

text: Male

text: Population/convenience control

text: ND26390 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 25 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Iberian;from Galicia

text: IBERIAN

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Iberian population

text: GM15892 female unaffected Iberian population sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND26397 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 60 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Onset at age 43;bradykinesia;rigidity;shuffling gait;mild stagger;mask-like facies;soft voice;dopamine responsive;affected siblings are GM15900 and GM15996

text: CHINESE

characteristic: ethnicity

text: sister

text: Homo sapiens

text: Asian

text: Female

text: Parkinson disease

text: GM15893 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND26398 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 55 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 38;dopamine responsive;bradykinesia;rigidity;shuffling gait;stooped posture;dysarthria;mask-like facies;soft voice;affected siblings are GM15893 and GM15996

characteristic: description

text: CHINESE

text: proband

text: Homo sapiens

text: Asian

text: Male

text: Parkinson disease

text: GM15900 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: Italian

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND26419 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Orofacial cleft 1 ofc1

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Unilateral (left) cleft lip and complete cleft palate;patient has normal twin;negative family history

text: FILIPINO

text: Homo sapiens

text: Other

characteristic: race

text: Female

text: Orofacial cleft 1 ofc1

text: GM15901 female affected Orofacial cleft 1 ofc1 sample


text: Coriell

text: live

text: Generic

text: 62 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND26440 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 5 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Bilateral cleft lip and complete cleft palate;no family history

text: FILIPINO

text: Homo sapiens

text: Other

text: Male

text: GM15903 male affected Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 sample


text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND26441 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 31;gradual progression of motor slowing;rigidity;postural reflex loss;shuffling gait;dopamine responsive;all paternal males are affected in their 4th decade

text: Homo sapiens

text: Black

text: Female

text: Parkinson disease

characteristic: tag

text: GM15904 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND26443 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Trichothiodystrophy

text: 21 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;brittle hair and nails;ichthyotic skin;photosensitivity;affected brother is GM14576 Lymphoblast;see GM14577 Lymph

characteristic: description

text: ITALIAN AMERICAN

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Trichothiodystrophy

text: Ttd ichthyosiform erythroderma with hair abnormality and mental and growth retardation included

text: GM15907 male affected Trichothiodystrophy sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND26444 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 package

text: Trichothiodystrophy

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;brittle hair and nails;ichthyotic skin;photosensitivity;unscheduled DNA synthesis levels induced by UVC irradiation (2.5;5 and 10 Jm-2) are between 5 to 10% of control values;affected brother is GM14577 Lymphoblast;see GM14576 Lymph

text: ITALIAN AMERICAN

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Trichothiodystrophy

text: GM15908 male affected Trichothiodystrophy sample


text: Coriell

text: live

text: Generic

text: 47 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND26445 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 13 MO

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Isochromia;possible hearing loss;Hirschsprung disease type 2 as part of Waardenburg-Shah syndrome

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Waardenburg-shah syndrome

text: Chromosome deletion

text: GM15913 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND26452 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Nijmegen breakage syndrome

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: The SV40 Transformed precrisis derivative of GM07166;a skin fibroblast strain established from a child diagnosed initially as having severe combined immunodeficiency and chromosome breakage syndrome (Conley et al;Blood 67:1251-1256;1986) later distinguished as genetically separate from ataxia-telangiectasia (Wegner et al;Clinical Genetics 33:20-32;1988;Jasper et al;Am J Hum Genet 42:66-73;1988);but showing similar x-ray sensitivity to ataxia telangiectasia (Jaspers et al;Cytogenet Cell Genet 49:259-263;1988);in 1998 GM07166 was identified as Nijmegen breakage syndrome carrying the Slavic mutation: deletion of 5bp at nucleotide 657 in exon 6 of the NBS1 gene resulting in premature termination at codon 218 657-661delACAAA (657del5) (Vason et al;Cell 93:467-476;1998);the chromosome counts vary from near diploid to near triploid to near tetraploid;the number of structural chromosome aberrations varies from 2 per cell in the near diploids to 17 per cell in the near tetraploids;it is not clear that any of the marker chromosomes recur in any of the cells;massive numbers of aberrations that are not clonal cannot be dealt with by the ISCN;it is to be expected that an SV40 transformant of a cell line from a donor with a chromosome instability syndrome is unstable with respect to both chromosome number and structural integrity

characteristic: description

text: proband

characteristic: gene

text: 42-82 with multiple chromosomal abberations

text: 5-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM15989 female affected Nijmegen breakage syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 57 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

characteristic: race

text: Male

text: ND26479 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Supranuclear palsy

text: 66 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: One yr hx of gait disturbance and leftsided dystonia;supranuclear gaze palsy;pt lived on Guam in the 1950s;bro has bladder control probs;mat unc has Parkinson dis;quiet voice;sml sloppy handwriting;spastic gait;postural instabil

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Progressive

text: Supranuclear palsy

text: GM15992 female affected Supranuclear palsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND26480 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Breast cancer

text: 67 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Breast cancer diagnosed at age 42;niece also diagnosed with breast cancer at age 42 (GM15232)

characteristic: description

text: maternal aunt

text: 46;XX;t(11;12)(11pter>11q24::12q22>12qter;12pter>12q22::11q24>11qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: Breast cancer

text: GM15993 female affected Breast cancer sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: Caucasian | American Indian/Alaska Native

characteristic: ethnicity

text: sibling

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

text: ND26481 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 54;bradykinesia;rigidity;shuffling gait;postural reflex loss;dysarthria;mask-like facies;soft voice;dopamine responsive;affected siblings are GM15893 and GM15900

text: CHINESE

text: sister

text: Homo sapiens

characteristic: organism

text: Asian

characteristic: race

text: Female

text: Parkinson disease

text: GM15996 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND26525 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 54 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 39;dopamine responsive;marked dyskinesia;shuffling gait;falls;resting tremor;muscular rigidity;postural reflex loss;dysarthria;personality changes;soft voice;masklike facies;examination for mental status was limited due to language barrier;but subject was oriented to date;time;and place and was able to provide a clinical history of her disease progress;no ocular apraxia;father also affected with onset at age 70

text: CHINESE

text: Homo sapiens

text: Asian

text: Female

text: Parkinson disease

characteristic: tag

text: GM15998 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND26526 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 63;ocular apraxia;masklike facies;bradykinesia;rigidity;postural instability;no dopamine response;soft voice;affected relatives are GM15893;GM15900;and GM15996

characteristic: description

text: CHINESE

characteristic: ethnicity

text: paternal uncle

text: Homo sapiens

text: Asian

text: Male

text: Parkinson disease

text: GM15999 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 22 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND26527 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hyperprothrombinemia;donor subject is homozygous for the G-to-A transition at position 20210 of the prothrombin gene (20210G>A);donor subject is also heterozygous for a C>G transversion at nucleotide 187 in exon 2 of the HFE (HLA-H) gene 187C>G resulting in a substitution of aspartic acid for histidine at codon 63 His63Asp (H63D);donor subject is heterozygous for a C>T mutation at nucleotide 677 in exon 4 of the methylenetetrahydrofolate reductase (MTHFR) gene 677C>T that results in a substitution of a valine for an alanine at codon 222 Ala222Val (A222V)

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Coagulation factor ii

text: Hemochromatosis

text: HFE

text: Human gene mutation panel - disorders of thrombosis

text: MTHFR

text: Human gene mutation panel - hemochromatosis

text: 5,10-methylenetetrahydrofolate reductase

text: GM16000 female affected F2 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 17 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

text: ND26528 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Episodes of supraventricular tachycardia requiring tract ablation

characteristic: description

characteristic: family id

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Nodal rhythm

characteristic: tag

text: GM16002 male unaffected Nodal rhythm sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 78 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND26542 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Nodal rhythm

text: 73 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Episode of transient aphasia;diagnosed at age 54;repeated episodes of paroxysmal atrial fibrillation;now chronic;affected brother is GM15880

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Nodal rhythm

text: GM16003 male affected Nodal rhythm sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND26543 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;affected uncles are GM15880 and GM16003

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Nodal rhythm

text: GM16004 male unaffected Nodal rhythm sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 80 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND26544 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;affected brothers are GM15880 and GM16003

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Nodal rhythm

text: GM16005 male unaffected Nodal rhythm sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND26545 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;affected great uncles are GM15880 and GM16003

characteristic: description

characteristic: family id

text: great nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Nodal rhythm

text: GM16006 male unaffected Nodal rhythm sample


text: Coriell

text: live

text: Generic

text: 62 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND26546 female unaffected Population/convenience control sample