text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND01597 female affected Intracranial aneurysm - unruptured sample


status: PUBLIC

tag: attribute

characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Cystathionine gamma-lyase

text: 7 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Unresponsive to B6;HLA type A28;A2;Bw40;Bw21;47;XY;+12/47;XY;+12;add(13) (q34);48%/52%;random chromosome rearrangements are present;donor subject is homozygous for a 2 bp deletion at nucleotide 940 in exon 8 of the CTH gene (940_941delCT) resulting in the substitution of threonine for leucine at codon 262 {Leu262Thr (L262T) causing a stop codon at 282

characteristic: description

text: CTH

characteristic: gene

text: 47;XY;+12 48 /47;XY;+12;add(13)(q34) 52

characteristic: karyotype

characteristic: mutation

text: 2 BP DEL

text: Homo sapiens

text: Asian

text: Male

characteristic: sex

text: CTH

characteristic: tag

text: Cystathioninuria

text: Cystathionine gamma-lyase

text: GM01454 male affected Cystathionine gamma-lyase sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND01603 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A1;B13;Bw27;46;XX;14% of cells show random chromosome loss/gain;clinically unaffected;donor subject is heterozygous for a C>T transition at nucleotide 356 in exon 2 of the CTH gene (356C>T) resulting in the substitution of isoleucine for threonine at codon 67 Thr67Ile (T67I)

text: mother

text: CTH

text: Homo sapiens

text: Caucasian

text: Female

text: CTH

text: Cystathioninuria

text: Cystathionine gamma-lyase

text: GM01456 female unaffected Cystathionine gamma-lyase sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 86 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected son is ND01608

characteristic: description

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01607 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Familial hypercholesterolemia

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM00486C Fibroblast;lymphoblast culture is verified receptor negative

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: FHC

characteristic: tag

text: Familial hypercholesterolemia

text: GM01459 female affected Familial hypercholesterolemia sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected son of ND01607

characteristic: family id

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND01608 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A2;A3;Bw22;Bw40;46;XX;40% of cells show random chromosome loss/gain;donor subject is heterozygous for a C>T transition at nucleotide 356 in exon 2 of the CTH gene (356C>T) resulting in the substitution of isoleucine for threonine at codon 67 Thr67Ile (T67I)

text: mother

text: CTH

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CTH

text: Cystathioninuria

text: Cystathionine gamma-lyase

text: GM01461 female unaffected Cystathionine gamma-lyase sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 68 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01611

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND01610 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A2;A11;B27;Bw22;proband not in Repository;clinically unaffected

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Homocystinuria

characteristic: tag

text: GM01463 female unaffected Homocystinuria sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01610

characteristic: family id

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND01611 male unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Glucosidase acid alpha

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Adult form;reduced size (approximately 3 kb) and amount of GAA mRNA;low acid alpha-1;4 glucosidase activity (2%);donor subject is heterozygous with one allele carrying a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (IVS1-13T>G);the resulting alternatively spliced transcript has an in frame deletion of exon 2 which contains the initiation codon

text: proband

text: GAA

characteristic: mutation

text: T>G

text: Homo sapiens

text: Caucasian

text: Female

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM01464 female affected Glucosidase acid alpha sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: PD

text: 78 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01613

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND01612 male affected PD sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01612

characteristic: description

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND01613 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Xeroderma pigmentosum, variant type

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP75TMA;Turkish;clinically affected;affected brother is GM14881 Fibro;see GM14883 Fibro;skin legions onset at age 2 yrs;no skin carcinomas;freckles;hypopigmentation;consanguinity

text: TURKISH

characteristic: ethnicity

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Xeroderma pigmentosum, variant type

text: XPV

text: GM14882 male affected Xeroderma pigmentosum, variant type sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

characteristic: gene

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND01618 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Xeroderma pigmentosum, variant type

text: 10 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP75TMA;Turkish;clinically affected;affected brother is GM14881;see GM14882A Lymphoblast;skin legions onset at age 2 yrs;no skin carcinomas;freckles;hypopigmentation;consanguinity

text: TURKISH

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Xeroderma pigmentosum, variant type

text: XPV

text: GM14883 male affected Xeroderma pigmentosum, variant type sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: PD

text: 71 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01630

characteristic: description

text: proband

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Late onset parkinsons dna panel: affected individuals

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01629 male affected PD sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Phosphoglycerate kinase 1

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Chinese;chronic anemia;mental retardation;seizures;analysis of mRNA revealed a nucleoside base change A>T at position 491 (491A>T) in the PGK1 gene which produces an amino acid substitution Asp>Val at peptide position 163 Asp163Val (D163V)

text: CHINESE

characteristic: ethnicity

text: Homo sapiens

text: Asian

text: Male

characteristic: sex

characteristic: tag

text: Phosphoglycerate kinase 1

text: GM14889 male affected Phosphoglycerate kinase 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01629

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND01630 female unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Glucose-6-phosphate dehydrogenase

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Canadian;chronic hemolytic anemia;neutrophil dysfunction;granuloma;analysis of mRNA revealed three nucleotide base changes resulting in amino acid substitutions Ser>Cys at position 106 Ser106Cys (S106C);Arg>Trp at position 182 Arg182Trp (R182W);and Arg>Cys at 198 Arg198Cys (R198C)

text: CANADIAN

characteristic: gene

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Glucose-6-phosphate dehydrogenase

text: GM14890 male affected Glucose-6-phosphate dehydrogenase sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 51 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial rupture-status undefined

text: ND01645 female affected Intracranial rupture-status undefined sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 17;103 pounds

characteristic: description

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14892 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND01648

text: proband

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

characteristic: tag

text: ND01647 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 19;120 pounds

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14893 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND01647

characteristic: family id

text: mother

text: Homo sapiens

text: More than one race

text: Female

text: ND01648 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 21;120 pounds

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14894 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 85 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND01652 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 20 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 16;93 pounds

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14895 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND01653 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 17;109 pounds

characteristic: description

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14897 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND01654 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Factor v deficiency

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Venous thrombosis;affected brother;father had thrombosis but was never tested;donor subject is homozygous for a guanine-to-adenine substitution at nucleotide 1691 (1691G>A) of the Factor V (F5) gene resulting in a replacement of Arg506 (CGA) by Gln (CAA) Arg506Gln (R506Q) .

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Factor v deficiency

characteristic: tag

text: Human gene mutation panel - disorders of thrombosis

text: GM14899 male affected Factor v deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 81 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND01667 male unaffected Control sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 27 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 19;114 pounds

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14900 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: PD

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01703

characteristic: description

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01683 male affected PD sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 18;119 pounds

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14901 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 87 YR

text: B-Lymphocyte

text: NINDS Repository

text: Daughter of an affected individual who is not in the NINDS collection

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND01685 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 19;114 pounds

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14903 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

text: 86 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND01691 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 34 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 22;159 pounds

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14904 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

text: 84 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND01692 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 21;139 pounds

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14905 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01683

characteristic: description

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND01703 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 23;160 pounds

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14907 male unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01705

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND01704 female affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 26 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 18;112 pounds

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14922 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01704

characteristic: description

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND01705 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 19;111 pounds

text: 46;XX;t(2;10)(2pter>2q33::10q26>10qter;10pter>10q26::2q33>2qter) 29 /46;XX 21

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14923 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01708

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: Parkinson disease

text: ND01707 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 21 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 18;112 pounds

text: Homo sapiens

text: Black

text: Female

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14924 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 77 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01707

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Neurologically normal caucasian control panel

text: ND01708 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 21;122 pounds

characteristic: description

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14925 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND01712 male affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 38 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 23;193 pounds

text: Homo sapiens

text: Caucasian

text: Male

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14926 male unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

text: PD

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01736

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: PD

text: Parkinson disease

text: ND01735 female affected PD sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 2 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: XPCS2LV;SV40 virus-transformed GM13370;clinical features of Cockayne syndrome with biochemical defect typical of XP;severe psychomotor retardation and microcephaly;dysplastic ears;large extremities;absent visual and auditory evoked potentials;salt and pepper retinitis pigmentosum

text: FLEMISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: XPG

text: GM14930 male affected Xeroderma pigmentosum, complementation group g sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01735

text: AMERICAN INDIAN/ALASKAN NATIVE

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

text: Control

text: Population/convenience control

text: ND01736 male unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPCS1LV;SV40 virus-transformed GM13371;clinical features of Cockayne syndrome with biochemical defect typical of XP;severe psychomotor retardation;microcephaly;skin very sensitive to sunlight;salt-and-pepper retinal pigmentation;retinal artery narrow

characteristic: description

text: FLEMISH

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: XPG

text: GM14931 female affected Xeroderma pigmentosum, complementation group g sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 60 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected niece of ND01738

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND01739 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 18;117 pounds

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14932 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND01741 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 18;119 pounds

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14933 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND01742 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 18;135 pounds

characteristic: karyotype

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14934 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND01743 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 20;115 pounds

characteristic: description

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14935 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 83 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND01744 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 32 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 23;148 pounds

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14936 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01745 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;brother (GM14942) and nephew (GM14943) have dyskinesia;46;XX with 2% of cells examined showing random chromosome loss

characteristic: family id

text: maternal aunt

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM14940 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND01746 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;son (GM14942) and grandson (GM14943) have dyskinesia;46;XY with 6% of the cells examined showing random chromosome loss/gain

characteristic: description

text: maternal grandfather

text: 46;XY;46;XY.arr 2q37.3(242421355-242672554)x1;8p23.1(7209578-7836249)x3

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM14941 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND01747 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Dyskinesia;affected nephew is GM14943;46;XY.ish(2)(D2S447x2;D2Z4x2)

text: maternal uncle

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM14942 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: PD

text: 78 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND01751

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Late onset parkinsons dna panel: affected individuals

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01750 female affected PD sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Chromosome deletion

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paroxysmal dyskinesia

characteristic: family id

text: proband

text: 46;XY;del(2)(pter->2q37:).ish del(2) (D2S447-;D2Z4-).arr 2q37.1q37.3(234941780-242738117)x1;46;XY;del(2)(pter>2q37:).ish del(2) (D2S447-;D2Z4-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Copy number variation (cnv) reference panel

text: Chromosome deletion

text: GM14943 male affected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND01750

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND01751 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;son (GM14942) and grandson (GM14943) have dyskinesia;46;XX with 10% of the cells examined showing random chromosome loss

characteristic: description

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM14944 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;son (GM14943) and brother (GM14942) have dyskinesia;46;XX.ish(2)(D2S447x2;D2Z4x2)

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM14945 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 38 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: African American

text: Female

text: ND25914 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

text: 21 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Maternal karyotype is 46;XX

text: 46;XY;add(9)(qter>p22:?).ish der(9)(9qter>9p22::12p12>12pter)(wcp9+;wcp12+;VIJ3TYAC14+);46;XY;der(9)(9pter->9p23::12p13->12pter).arr 9p24.3p23(36586-12935133)x1;12p13.33p13.2(20690-12101656)x3

text: Homo sapiens

text: Black

text: Male

text: Derivative chromosome

text: GM14946 male unaffected Derivative chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: More than one race

text: Male

text: ND25915 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 62 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of 4 children with epilepsy;affected son is GM14951

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Partial

text: Epilepsy

text: GM14950 female unaffected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive supranuclear palsy

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Progressive supranuclear palsy

text: ND25922 female affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;intractable epilepsy;major and mixed seizures;seizures occur almost daily;EEG performed at age 4-5 due to family history of epilepsy and this was abnormal and antiepileptic medication was begun;first overt seizure (tonic-clonic) occured at age 8;seizure activity increased and switched to complex partial seizures by age 16;neurological exam revealed impaired abstraction;poor recent memory;impaired graphesthesia;and poor rapid alternating movements bilaterally;EEG at age 24 showed an irregular background with multifocal areas of slowing as well as multiple areas of sharp and spike activity;including both temporals;as well as the left and right central parietal regions;MRI about age 22 showed mild ventriculomegaly and mild atrophy of the cerebellum;computed axial tomography scan report from mid 1970's showed what was felt to be mild cerebral dysgenesis;2 affected sisters and 1 affected half-sister

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Partial

text: Epilepsy

text: GM14951 male affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: husband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND25923 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Acute lymphocytic leukemia

text: 67 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Acute leukemia;three generations of family with low platelet counts and abnormal bone marrow megakaryotypes;2 affected children and 1 affected grandchild;46;XY;del(11)(q23){16}/46;XY{4} in bone marrow

text: ENGLISH/IRISH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Thrombocytopenia

characteristic: tag

text: Acute lymphocytic leukemia

text: GM14952 male affected Acute lymphocytic leukemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 41 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND25925 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: MEFV

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;monthly fever attacks;WBC count 20;000;ESR 60-75 mm/hr;both parents are asymptomatic;one allele carries the E148Q (Glu148Gln) mutation in the MEFV gene

text: SICILIAN

text: proband

text: MEFV

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Familial mediterranean fever

text: Familial mediterranean fever gene

text: MEFV

text: GM14978 male affected MEFV sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND25937 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 30 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Obligate heterozygote;asymptomatic;affected son is GM14978

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Familial mediterranean fever

text: MEFV

text: GM14979 female unaffected Familial mediterranean fever sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 15 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND25938 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Spinocerebellar ataxia

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;ataxia of gait and limbs;dysarthria;onset at age 38;dominant inheritance;affected father;grandfather;sister;brother;paternal uncle;and paternal aunt;MRI showed atrophy of cerebellum and brain stem

text: EAST INDIAN

characteristic: ethnicity

text: Homo sapiens

text: Asiatic Indian

text: Female

text: Spinocerebellar ataxia

text: GM14982 female affected Spinocerebellar ataxia sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25948 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Speech and cognitive delay

text: ITALIAN/GERMAN

text: 46;XX;inv(1)(pter>q32::q44>q32::q44> qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Inverted chromosome

text: GM15006 female unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND25960 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: SNCA

text: 37 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Onset at age 24;severe bradykinesia;dopamine responsive;resting tremor;rigidity;unable to speak;fed through PEG tube;slow walk;needs assistance to stand;mother and maternal uncle and aunt were affected;affected cousins 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 (ND00196) with additional family members

characteristic: description

text: maternal first cousin

text: SNCA

characteristic: gene

text: TRIPLICATION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Parkinson disease familial type 1

text: Synuclein alpha

text: SNCA

text: GM15009 male affected SNCA sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25961 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: SNCA

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 30;resting tremor;masklike facies;shuffling gait;postural instability;dyskinesias with on/off phenomenon;dopamine responsive;father and 2 paternal aunts were affected;affected cousins are GM15009 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 .

text: maternal first cousin

text: SNCA

text: TRIPLICATION

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease familial type 1

text: Synuclein alpha

text: SNCA

text: GM15010 female affected SNCA sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND25962 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: 4 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Developmental delays;severe microcephaly;ventricular septal defect;pre-auricular fistula a.s.;lowset thumbs

characteristic: description

text: 46;XY;der(2)(2qter>2p25::11q13> 11qter).ish der(2)(wcp11+);46;XY;der(2)t(2;11)(2qter>2p25::11q13> 11qter).ish der(2)(wcp11+)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Derivative chromosome

text: Translocated chromosome

text: GM15099 male unaffected Copy number variation (cnv) refernece panel 02 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND25963 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Translocated chromosome

text: 8 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Macrocephaly;craniofacial disproportion;growth and developmental delays;exotropia;abnormal pinna;inguinal hernia;bleeding disorder

text: proband

text: 46;XY;t(1;2)(1qter>1p31::2q14.2>2qter;2pter>2q14.2::1p31>1pter)

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Translocated chromosome

text: GM15186 male affected Translocated chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND25964 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hungarian speaking;born in the city of Szeged;all four grandparents speak Hungarian

text: HUNGARIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Human variation panel - hungarian

text: GM15199 female unaffected Human variation panel - hungarian sample


text: Coriell

text: live

text: Generic

text: 27 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: ND25977 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HUNGARIAN

text: Homo sapiens

text: Caucasian

text: Male

text: Human variation panel - hungarian

text: GM15200 male unaffected Human variation panel - hungarian sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND25978 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HUNGARIAN

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Human variation panel - hungarian

text: GM15201 female unaffected Human variation panel - hungarian sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25979 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hungarian;born in the city of Bihartorda;reports four Hungarian grandparents

text: HUNGARIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Human variation panel - hungarian

text: GM15202 male unaffected Human variation panel - hungarian sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25980 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: HUNGARIAN

text: Homo sapiens

text: Caucasian

text: Female

text: Human variation panel - hungarian

text: GM15203 female unaffected Human variation panel - hungarian sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND25987 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hungarian speaking;born in the city of Kubekhaza;all four grandparents speak Hungarian

text: HUNGARIAN

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Human variation panel - hungarian

text: GM15204 female unaffected Human variation panel - hungarian sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND25988 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hungarian speaking;born in the city of Nagykanizsa;all four grandparents speak Hungarian

text: HUNGARIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Human variation panel - hungarian

text: GM15205 male unaffected Human variation panel - hungarian sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25991 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 23 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hungarian speaking;born in the city of Pecs;all four grandparents speak Hungarian

characteristic: description

text: HUNGARIAN

text: Homo sapiens

text: Caucasian

text: Male

text: Human variation panel - hungarian

text: GM15206 male unaffected Human variation panel - hungarian sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: ND25995 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 22 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hungarian speaking;born in the city of Szeged;all four grandparents speak Hungarian

text: HUNGARIAN

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Human variation panel - hungarian

text: GM15207 female unaffected Human variation panel - hungarian sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25996 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hungarian;born in the city of Szeged;reports four Hungarian grandparents

text: HUNGARIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Human variation panel - hungarian

text: GM15208 male unaffected Human variation panel - hungarian sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 19 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: ND25997 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Breast cancer

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Breast cancer diagnosed at age 42;maternal aunt also diagnosed with breast cancer at age 42 (GM15993);consitutional t(11q+:12q-)

characteristic: description

text: proband

text: 46;XX;t(11;12)(11pter>11q24::12q22> 12qter;12pter>12q22::11q24>11qter).ish t(11;12)(wcp11+;wcp12+;wcp12+;wcp11+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: Breast cancer

text: GM15232 female affected Breast cancer sample


text: Coriell

text: live

text: Generic

text: 78 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Asian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: ND25999 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Meckel syndrome

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Encephalocele;cystic kidneys;cleft palate;polydactyly

text: NORTHERN EUROPEAN

text: Homo sapiens

text: Caucasian

text: Female

text: MKS

text: Meckel syndrome

text: GM15233 female affected Meckel syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND26002 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 31 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal individual of cuban descent

text: CUBAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM15453 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: 48 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND26003 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Uniparental isodisomy for chromosome 8;history of asthma as child;at age 13 years a torsion of appendix testis on the left side was diagnosed and at the time of surgery two appendices were discovered with normal pathology;at age 14 years a pea-sized lump was removed from the area of the right slighlty gynecomastic breast;at age 26 years an ileal carcinoid tumor of about 1 cm in diameter was removed proximal from the ileocecal junction and tumor cells also found in four enlarged regional lymph nodes;at age 33 years joint pain developed in the proximal interphalangeal joint of the left index finger;left ankle;and left knee;swollen joints;the sedimentation rate was high (over 90);HLA B27 was positive;serologic tests for rheumatoid arthritis were negative;symptoms of early presbyopia at age 39 years;slight thoracal scoliosis;numerous pigmented nevi and histology on one indicated a normal nevus pigmentosus intradermalis;several small cherry hemangiomas on trunk;three irregularly shaped depigmented maculae of about 2 cm diameter each on the right scapular region;normal intelligence.

characteristic: description

text: 46;XY;46;XY.arr 8p23.3q24.3(103564-1457732553)x2 hmz

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Uniparental disomy chromosome 8

text: GM15603 male affected Copy number variation (cnv) reference panel sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND26004 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Nijmegen breakage syndrome

text: 20 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Adeno SV40 1613-transformed GM07166;short stature;microcephaly;and developmental delay;decrease in both B and T cell number and function;no malignancies;T cells show breakage at fragile sites on chromosomes 7 and 14;severe immunodeficiency;see GM07078A Lymphoid and GM15989;the precrisis SV40 transformation of GM07166

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Nijmegen breakage syndrome

text: GM15696 female affected Nijmegen breakage syndrome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND26005 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Xeroderma pigmentosum, variant type

text: 17 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP70TMA;Turkish;clinically affected;squamous and basal cell carcinomsa;affected brother is GM14875;see GM15698 Lymphoblast;skin legions onset at age 4 yrs;telangiectasias;actinic keratosis;freckles;hypopigmentation;consanguinity;normal unscheduled DNA synthesis

text: TURKISH

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Xeroderma pigmentosum, variant type

text: XPV

text: GM15697 female affected Xeroderma pigmentosum, variant type sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND26006 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Xeroderma pigmentosum, variant type

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP70TMA;Turkish;clinically affected;squamous and basal cell carcinomas;affected brother is GM14875 Fibro;see GM15697 Fibro;skin legions onset at age 4 years;telangiectasias;actinic keratosis;freckles;hypopigmentation;consanguinity;normal unscheduled DNA synthesis

characteristic: description

text: TURKISH

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Xeroderma pigmentosum, variant type

text: XPV

text: GM15698 female affected Xeroderma pigmentosum, variant type sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND26007 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XPH93TMA;Turkish;obligate heterozygote;affected son is GM14870A;donor subject is heterozygous for a 6 bp deletion at nucleotide 1395 in exon 8 of the XPC gene (1395_1400delTAAAGA) resulting in the deletion of codon 430 and the creation of a termination codon

text: TURKISH

text: father

text: XPC

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM15702 male unaffected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Ashkenazi Jewish

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND26008 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XPH94TMA;Turkish;obligate heterozygote;affected son is GM14870A;donor subject is heterozygous for a 6 bp deletion at nucleotide 1395 in exon 8 of the XPC gene (1395_1400delTAAAGA) resulting in the deletion of codon 430 and the creation of a termination codon

text: TURKISH

characteristic: ethnicity

characteristic: family id

text: mother

text: XPC

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: XPC

text: GM15704 female unaffected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND26009 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPH95TMA;Turkish;obligate heterozygote;mother of 3 affected children;see GM15706 Lymphoblast

characteristic: description

text: TURKISH

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Xeroderma pigmentosum, variant type

characteristic: tag

text: XPV

text: GM15705 female unaffected Xeroderma pigmentosum, variant type sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 11 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND26011 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XPH95TMA;Turkish;obligate heterozygote;mother of 3 affected children;see GM15705 Fibroblast

text: TURKISH

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Xeroderma pigmentosum, variant type

text: XPV

text: GM15706 female unaffected Xeroderma pigmentosum, variant type sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND26012 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPH96TMA;Turkish;obligate heterozygote;affected son is GM14867 and affected daughter is GM14869;see GM15708 Lymphoblast;donor subject is heterozygous for a C>T nonsense mutation in exon 8 at nucleotide 1840 (1840C>T) which converts the CGA codon of arginine at amino acid 579 to a UGA stop codon resulting in marked truncation at codon 940 in the XPC gene

text: TURKISH

characteristic: ethnicity

text: father

text: XPC

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: XPC

text: GM15707 male unaffected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: possibly 1/4 Ashkenazi Jewish

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND26013 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 package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XPH96TMA;Turkish;obligate heterozygote;affected son is GM14867 Fibroblast and affected daughter is GM14868A;see GM15707 Fibroblast;donor subject is heterozygous for a C>T nonsense mutation in exon 8 at nucleotide 1840 (1840C>T) which converts the CGA codon of arginine at amino acid 579 to a UGA stop codon resulting in marked truncation at codon 940 in the XPC gene

characteristic: description

text: TURKISH

text: father

text: XPC

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: XPC

text: GM15708 male unaffected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Asian

text: Female

text: ND26026 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP100TMA;Turkish;clinically affected;basal cell carcinomas;malignant melanoma;malignant lentigo;affected sister is GM15715;see GM15710 Lymph;skin legions onset at age 3 years;atrophy;telangiectasias;actinic keratosis;hypopigmentation;consanguinity;donor subject is homozygous for a T>A transversion in intron 3 of the XPC gene (IVS3-9T>A) located within the splice lariat branchpoint sequence resulting in a deleted exon 4 and a stop 3 codons downstream

text: TURKISH

characteristic: ethnicity

characteristic: family id

text: proband

text: XPC

characteristic: gene

text: T>A

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: XPC

text: GM15709 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

text: ND26027 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

characteristic: NCBI submission package

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP100TMA;Turkish;clinically affected;basal cell carcinomas;malignant melanoma;malignant lentigo;affected sister is GM15716;see GM15709 Fibro;skin legions onset at age 3 yrs;atrophy;telangiectasias;actinic keratosis;hypopigmentation;consanguinity;donor subject is homozygous for a T>A transversion in intron 3 of the XPC gene (IVS3-9T>A) located within the splice lariat branchpoint sequence resulting in a deleted exon 4 and a stop 3 codons downstream

text: TURKISH

text: proband

text: XPC

text: T>A

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: XPC

text: GM15710 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 7 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Male

text: Tourette syndrome

characteristic: tag

text: ND26028 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 29 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP98TMA;Turkish;clinically affected;squamous cell carcinomas;affected sister is GM15697 and affected brother is GM14875;see GM15712 Lymph;skin legions onset at age 2 years;atrophy;telangiectasias;actinic keratosis;hypopigmentation;consanguinity

characteristic: description

text: TURKISH

characteristic: ethnicity

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: XPC

text: GM15711 female affected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Other

text: Male

text: ND26029 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

characteristic: NCBI submission model

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP98TMA;Turkish;clinically affected;squamous cell carcinomas;affected sis is GM15698 and affected bro is GM14875 Fibro;see GM15711 Fibro;skin legions onset at age 2 yrs;atrophy;telangiectasias;actinic keratosis;hypopigmentation;consanguinity

text: TURKISH

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: XPC

text: GM15712 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: More than one race

text: Female

characteristic: sex

text: ND26030 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 10 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: XP101TMA;Turkish;clinically affected;squamous cell carcinomas;malignant lentigo;affected brother is GM15709;see GM15716 Lymph;skin legions onset at age 3 yrs;atrophy;telangiectasias;actinic keratosis;hypopigmentation;consanguinity;donor subject is homozygous for a T>A transversion in intron 3 of the XPC gene (IVS3-9T>A) located within the splice lariat branchpoint sequence resulting in a deleted exon 4 and a stop 3 codons downstream

text: TURKISH

text: sister

text: XPC

characteristic: gene

text: T>A

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: XPC

text: GM15715 female affected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: More than one race

text: Male

text: Tourette syndrome

text: ND26031 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP101TMA;Turkish;clinically affected;squamous cell carcinomas;malignant lentigo;affected brother is GM15710;see GM15715 Fibro;skin legions onset at age 3 yrs;atrophy;telangiectasias;actinic keratosis;hypopigmentation;consanguinitity;donor subject is homozygous for a T>A transversion in intron 3 of the XPC gene (IVS3-9T>A) located within the splice lariat branchpoint sequence resulting in a deleted exon 4 and a stop 3 codons downstream

characteristic: description

text: TURKISH

characteristic: ethnicity

characteristic: family id

text: sister

text: XPC

text: T>A

text: Homo sapiens

text: Caucasian

text: Female

text: XPC

text: GM15716 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Male

text: ND26032 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: XPH102TMA;Turkish;obligate heterozygote;affected children are GM15709 and GM15715;see GM15718 Lymphoid;;donor subject is heterozygous for a T>A transversion in intron 3 of the XPC gene (IVS3-9T>A) located within the splice lariat branchpoint sequence resulting in a deleted exon 4 and a stop 3 codons downstream

text: TURKISH

text: mother

text: XPC

text: T>A

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: XPC

text: GM15717 female unaffected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 32 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: More than one race

text: Female

characteristic: tag

text: ND26033 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XPH102TMA;Turkish;obligate heterozygote;affected children are GM15710 and GM15716;see GM15717 Fibroblast;donor subject is heterozygous for a T>A transversion in intron 3 of the XPC gene (IVS3-9T>A) located within the splice lariat branchpoint sequence resulting in a deleted exon 4 and a stop 3 codons downstream

text: TURKISH

text: mother

text: XPC

characteristic: gene

text: T>A

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: XPC

text: GM15718 female unaffected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: ashkenazi jewish

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND26034 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: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XPH97TMA;Turkish;obligate heterozygote;affected son is GM14867 and affected daughter is GM14869;see GM15722 Lymphoblast;donor subject is heterozygous for a C>T nonsense mutation in exon 8 at nucleotide 1840 (1840C>T) which converts the CGA codon of arginine at amino acid 579 to a UGA stop codon resulting in marked truncation at codon 940 in the XPC gene

characteristic: description

text: TURKISH

text: mother

text: XPC

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: XPC

text: GM15721 female unaffected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinsonism, other

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Progressive supranuclear palsy

text: Parkinsonism, other

text: ND26046 female affected Parkinsonism, other sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XPH97TMA;Turkish;obligate heterozygote;affected son is GM14867 Fibroblast and affected daughter is GM14868A;see GM15721 Fibroblast;donor subject is heterozygous for a C>T nonsense mutation in exon 8 at nucleotide 1840 (1840C>T) which converts the CGA codon of arginine at amino acid 579 to a UGA stop codon resulting in marked truncation at codon 940 in the XPC gene

text: TURKISH

text: mother

text: XPC

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: XPC

text: GM15722 female unaffected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: husband

text: Homo sapiens

text: Caucasian

text: Male

text: ND26047 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP123TMA;Turkish;skin legions onset at age 4 yrs;no skin carcinomas;no atrophy;no telangiectasias;freckles;consanguinity;affected sisters are GM14876 and GM14878;donor subject is homozygous for an A>G transition in intron 3 of the XPC gene (IVS3-24A>G) which results in expression of both an mRNA of short size and the wild type size;the shorter mRNA has a skipped exon 4 which results in a frameshift and premature termination

text: TURKISH

characteristic: ethnicity

characteristic: family id

text: sister

text: XPC

text: A>G

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: XPC

text: GM15723 female unaffected Xeroderma pigmentosum, complementation group c sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND26050 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Born in Frydek-Mistek;all four grandparents were born in Czechoslovakia

characteristic: description

text: CZECH

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Czechoslovakian population

text: Human variation panel - czechoslovakian

text: GM15724 male unaffected Czechoslovakian population sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 74 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND26051 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

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

text: CZECH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Czechoslovakian population

text: Human variation panel - czechoslovakian

text: GM15725 male unaffected Czechoslovakian population sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: 1/2 Ashkenazi Jewish (maternal side)

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND26052 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 30 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

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

text: CZECH

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Czechoslovakian population

text: Human variation panel - czechoslovakian

text: GM15726 male unaffected Czechoslovakian population sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: French (from France)

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND26053 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 23 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: description

text: CZECH

text: Homo sapiens

text: Caucasian

text: Male

text: Czechoslovakian population

text: Human variation panel - czechoslovakian

text: GM15727 male unaffected Czechoslovakian population sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND26059 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: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: CZECH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Czechoslovakian population

text: Human variation panel - czechoslovakian

text: GM15728 male unaffected Czechoslovakian population sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 10 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: ND26060 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 36 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

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

text: CZECH

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Czechoslovakian population

text: Human variation panel - czechoslovakian

text: GM15729 female unaffected Czechoslovakian population sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 12 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND26061 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: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: description

text: CZECH

text: Homo sapiens

text: Caucasian

text: Female

text: Czechoslovakian population

text: Human variation panel - czechoslovakian

text: GM15730 female unaffected Czechoslovakian population sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND26062 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: CZECH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Czechoslovakian population

text: Human variation panel - czechoslovakian

text: GM15731 female unaffected Czechoslovakian population sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 13 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: ND26063 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

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

text: CZECH

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Czechoslovakian population

text: Human variation panel - czechoslovakian

text: GM15732 female unaffected Czechoslovakian population sample