text: Coriell

text: live

text: Generic

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: great nephew

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Nodal rhythm

text: GM16007 male unaffected Nodal rhythm sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

tag: attribute

text: 31 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND26555 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 17 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

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

characteristic: description

text: great niece

text: Homo sapiens

text: Caucasian

text: Female

text: Nodal rhythm

text: GM16008 female unaffected Nodal rhythm sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

text: ND26556 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: great nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Nodal rhythm

text: GM16009 male unaffected Nodal rhythm sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 3 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

text: ND26557 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;affected uncles are GM15880 and GM16003

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: Nodal rhythm

text: GM16010 female unaffected Nodal rhythm sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 17 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND26559 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;affected brothers are GM15880 and GM16003

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Nodal rhythm

text: GM16011 male unaffected Nodal rhythm sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: White/Caucasian | Black/African American

characteristic: ethnicity

text: sibling

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

text: ND26560 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;affected father is GM15880

text: ASHKENAZI

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Nodal rhythm

characteristic: tag

text: GM16019 male unaffected Nodal rhythm sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND26564 female affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Nodal rhythm

text: GM16020 male unaffected Nodal rhythm sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: husband

text: Homo sapiens

text: Caucasian

text: Male

text: ND26565 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 43 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mother of an affected child (GM16024)

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: XPG

text: GM16023 female unaffected Xeroderma pigmentosum, complementation group g sample


text: Coriell

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Homo sapiens

text: Asian

text: Female

text: Population/convenience control

text: ND26568 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP65BE;marked sunsensitivity in childhood;several blistering burns on minimal exposure;no skin cancer;mild freckling on face;mild clinical XP phenotype;no neurological abnormalities;DNA excision repair is 10.8 % of normal;see GM16398 Fibroblast

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: XPG

text: GM16024 female affected Xeroderma pigmentosum, complementation group g sample


text: Coriell

text: live

text: Generic

text: 71 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Asian

text: Male

characteristic: sex

text: Population/convenience control

text: ND26569 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Deep vein thrombosis;one daughter had postpartum thrombosis;Donor subject is heterozygous for the G-to-A transition at position 20210 of the prothrombin gene (20210G>A);heterozygous for a C>T mutation at nucleotide 677 in exon 4 of the methylenetetrahydrofolate reductase (MTHFR) gene 677C>T that results in a substitution of a valine for an alanine at codon 222 Ala222Val (A222V);heterozygous for a G>A transition at nucleotide 1691 (1691G>A) of the Factor V (F5) gene resulting in a substitution of glutamine for arginine at codon 506 Arg506Gln (R506Q);heterozygous for an A>T transversion at nucleotide 193 in exon 2 of the HFE (HLA-H) gene 193A>T resulting in a substitution of cysteine for serine at codon 65 Ser65Cys (S65C)

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Coagulation factor ii

characteristic: tag

text: Factor v deficiency

text: Hemochromatosis

text: HFE

text: Human gene mutation panel - disorders of thrombosis

text: MTHFR

text: Human gene mutation panel - hemochromatosis

text: 5,10-methylenetetrahydrofolate reductase

text: GM16028 female unaffected F2 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: wife

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND26577 female unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: IBR-BD Registry #1210/BD037;age of onset of 7 years;progressive visual difficulties;granular osmiophilic deposits (GROD) mixed with curvilinear and fingerprint profiles;palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range;1-3 pmoles/min/mg of protein);compound heterozygote;one allele carries an arg151-to-ter nonsense mutation resulting from a C-to-T substitution at nucleotide 451 ARG151TER (R151X) in exon 5 of the palmitoyl-protein thioesterase 1 (PPT1) gene;a second allele carries a thr 75-to-pro missense mutation in exon 2 resulting from an A to-C transversion at nucleotide 223 THR75PRO(T75P) .

characteristic: description

text: SCOTTISH/IRISH/GERMAN/HUNGARIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Palmitoyl-protein thioesterase 1

text: GM16080 male affected Ceroid lipofuscinosis, juvenile neuronal, with granular osmiophilic deposit sample


text: Coriell

text: live

text: Generic

text: 66 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND26580 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: IBR-BD Registry #1418/20105;age of onset of 7.5 years;seizures;granular osmiophilic deposits (GROD);palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range;1-3 pmoles/min/mg of protein);compound heterozygote;one allele carries an arg151-to-ter nonsense mutation resulting from a C-to-T substitution at nucleotide 451 ARG151TER (R151X) in exon 5 of the palmitoyl-protein thioesterase 1 (PPT1) gene;a second allele carries an asp 79-to-gly missense mutation in exon 3 resulting from an A to-G transversion at nucleotide 236 ASP79GLY (D79G)

text: ENGLISH/HISPANIC

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Palmitoyl-protein thioesterase 1

text: GM16081 female affected Ceroid lipofuscinosis, juvenile neuronal, with granular osmiophilic deposit sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND26589 male affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: IBR-BD Registry #1639/UT2-01;age of onset at 3.5 years with seizures;deterioration after 4 years of age;granular osmiophilic deposits (GROD) on skin biopsy at age 6;palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range;1-3 pmoles/min/mg of protein);compound heterozygote;one allele carries a trp 296-to-ter nonsense mutation resulting from a G-to-A substitution at nucleotide 888 TRP296TER (W296X) in exon 9 of the palmitoyl-protein thioesterase 1 (PPT1) gene;second allele contains a gln177-to-glu missense mutation in exon 5 resulting from a C-to-G transversion at nucleotide 529 GLN177GLU (Q177E)

characteristic: description

text: ENGLISH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Ceroid lipofuscinosis, neuronal 1, infantile

text: Palmitoyl-protein thioesterase 1

text: GM16082 female affected PPT1 sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 78 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease

text: ND26590 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: IBR-BD Registry #UT8-01;cognitive/motor regression at 12 months;blind at 20 months;deceased at age 3;granular osmiophilic deposits (GROD);palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range;1-3 pmoles/min/mg of protein);homozygous for an arg151-to-ter nonsense mutation resulting from a C-to-T substitution at nucleotide 451 ARG151TER (R151X) in exon 5 of the palmitoyl-protein thioesterase 1 (PPT1) gene

text: GERMAN/WELSH/CHEROKEE INDIAN/ITALIAN

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Palmitoyl-protein thioesterase 1

text: GM16083 female affected PPT1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinson disease

text: ND26591 female affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: IBR-BD Registry #1652/UT11-01;cognitive/motor deterioration at 12 months;granular osmiophilic deposits (GROD);palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range;1-3 pmoles/min/mg of protein);compound heterozygote;one allele carries an arg151-to-ter nonsense mutation resulting from a C-to-T substitution at nucleotide 451 ARG151TER (R151X) in exon 5 of the palmitoyl-protein thioesterase 1 (PPT1) gene;the second allele carries a his 39-to-gln missense mutation in exon 1 resulting from a T to-A transversion at nucleotide 117 HIS39GLN (H39Q)

characteristic: description

text: IRISH/WELSH/ENGLISH/GERMAN/NORWEGIAN

text: Homo sapiens

text: Caucasian

text: Male

text: Palmitoyl-protein thioesterase 1

text: GM16084 male affected PPT1 sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 27 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Other

text: Female

text: Epilepsy

text: ND26594 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: IBR-BD Registry #1357UT7-01;cognitive difficulties began at age 7;now nursing home-bound at age 26;granular osmiophilic deposits (GROD);palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range;1-3 pmoles/min/mg of protein);homozygous for a thr 75-to-pro missense mutation in exon 2 of the palmitoyl-protein thioesterase 1 (PPT1) gene resulting from an A to-C transversion at nucleotide 223 THR75PRO (T75P)

text: SCOTTISH

characteristic: ethnicity

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Palmitoyl-protein thioesterase 1

text: GM16085 female affected Ceroid lipofuscinosis, juvenile neuronal, with granular osmiophilic deposit sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND26595 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Lig4 syndrome

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Subject with pronounced radiosensitivity but normal viability and without major immune dysfunction;subject died of leukemia;cell lines from normal tissue show pronounced radiosensitivity attributable to defect in DNA ligase IV and are unable to repair DNA double strand breaks;SV40 (pSVneo) transformed cell line is GM16089;donor subject carries an arg278 to his in the LIG4 gene ARG278HIS (R278H);resulting from a G-to-A transition at nucleotide 833 (833G>A).

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Lig4 syndrome

text: Ligase iv, dna, atp-dependent

text: GM16088 male affected Lig4 syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 15 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND26596 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: AshJ

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND26625 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND26627 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Lig4 syndrome

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: SV40 (pSVneo) transformed GM16088;pre-crisis and not immortal;subject with pronounced radiosensitivity but normal viability and without major immune dysfunction;subject died of leukemia;cell lines from normal tissue show pronounced radiosensitivity attributable to defect in DNA ligase IV and are unable to repair DNA double strand breaks

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Lig4 syndrome

text: GM16089 male affected Lig4 syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 24 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND26628 female affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Xeroderma pigmentosum complementation group C;UVC irradiation induces less than 10% of normal unscheduled DNA synthesis;several facial tumors;cells show unusual sensitivity to ionizing radiation;some features of Fanconi anemia are present including gradual and late onset of pancytopenia;short stature;and good response to androgen therapy;cells do not show increased chromosomal sensitivity to mytomycin C or diepoxybutane;parents are second cousins;SV40 (pSV3neo) transformed version of this cell line is GM16093

text: PAKISTANI

text: proband

text: Homo sapiens

characteristic: organism

text: East Indian

text: Female

text: XPC

text: GM16092 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND26629 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: 15 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: SV40 (pSV3neo) transformed GM16092;xeroderma pigmentosum complementation group C;UVC irradiation induces less than 10% of normal unscheduled DNA synthesis;several facial tumors;cells show unusual sensitivity to ionizing radiation;some features of Fanconi anemia are present including gradual and late onset of pancytopenia;short stature;and good response to androgen therapy;cells do not show increased chromosomal sensitivity to mytomycin C or diepoxybutane;parents are second cousins

text: PAKISTANI

text: proband

text: Homo sapiens

text: East Indian

text: Female

text: XPC

text: GM16093 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

text: ND26630 male affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Cockayne syndrome type a

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Line CS3BEs3gl;SV40 (pSV3gpt) transformed GM01856;fibroblasts have markedly decreased post UV light colony-forming ability;same x-ray sensitivity as normal cells;see GM01857A Lymphoid;complementation group A

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: CSA

text: Cockayne syndrome type a

text: GM16094 male affected Cockayne syndrome type a sample


text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND26631 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Line CS1ANps3g2;SV40 (pSV3gpt) transformed GM00739;46;XX;increased UV light-induced sister chromatid exchanges and cell killing;complementation group B;GM16095 has only one allele in common with the untransformed line from the same subject;GM00739 (CS1AN);as described by Troelstra et al (1992): this allele has an A>T transversion at nucleotide 1088 in exon 5 of the ERCC6 gene (1088A>T) resulting in premature truncation of the protein {Lys337Ter (K337X)

characteristic: description

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: CSB

text: Excision-repair cross-complementing group 6

text: Cockayne syndrome type b

text: GM16095 female affected ERCC6 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND26635 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Ligase i, dna, atp-dependent

text: 18 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hypogammaglobulinemia;syndrome of immunodeficiency;increased sensitivity to DNA-damaging agents;and delayed development attributed to loss of DNA ligase I function;died at the age of 19 years with lymphoma;SV40 (PSVneo) transformed cell line is GM16097;donor subject was a compound heterozygote;carrying two different missense mutations in the LIG1 gene: the paternal allele showed a substitution of lysine for glutamic acid-566 GLU566LYS (E566K) resulting from G-to-A transition and the maternal allele carried an arg771-to-trp mutation ARG771TRP (R771W);the result of a C-to-T transition.

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ligase i, dna, atp-dependent

text: GM16096 female affected Ligase i, dna, atp-dependent sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive supranuclear palsy

text: 67 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND26640 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Ligase i, dna, atp-dependent

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: SV40 (pSVneo) transformed GM16096;hypogammaglobulinemia;syndrome of immunodeficiency;increased sensitivity to DNA-damaging agents;and delayed development attributed to loss of DNA ligase I function;died at the age of 19 years with lymphoma;donor subject was a compound heterozygote;carrying two different missense mutations in the LIG1 gene: the paternal allele showed a substitution of lysine for glutamic acid-566 GLU566LYS (E566K) resulting from G-to-A transition and the maternal allele carried an arg771-to-trp mutation ARG771TRP (R771W);the result of a C-to-T transition.

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ligase i, dna, atp-dependent

text: GM16097 female affected Ligase i, dna, atp-dependent sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND26641 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Breast cancer type 1

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Breast cancer at age 35;mother had bilateral breast cancer at ages 35 and 50 and colon cancer at age 65;maternal grandmother had ovarian cancer at age 41. Four generational pedigree contains three cases of ovarian cancer;six cases of breast cancer;two of them bilaterial;and two cases of prostate. Mutation in BRCA1 is IVS8 +2 T>A.

characteristic: description

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Breast cancer type 1

text: GM16105 female affected Breast cancer type 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: ND26665 female unaffected Control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: IBR-BD Registry #1781/C12507;age of onset of 3 years;progressive cognitive difficulties;granular osmiophilic deposits (GROD);palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range;1-3 pmoles/min/mg of protein);compound heterozygote;one allele carries a three base pair deletion (deltaCTT) that occured in a small repeat at nucleotide positions 249-257 of the palmitoyl-protein thioesterase 1 (PPT1) cDNA. The consequence of this deletion is the loss of an invariant phenylalanine at amino acid position 84 255-257FCTT(F84del) . The second allele contains a gln177-to-glu missense mutation resulting from a C-to-G transversion at nucleotide 529 GLN177GLU (Q177E) .

text: GERMAN

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceroid lipofuscinosis, neuronal 1, infantile

text: Palmitoyl-protein thioesterase 1

text: GM16106 female affected PPT1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 52 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND26666 female unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: IBR-BD Registry #1576/C10949;age of onset of 18 months;progressive visual and cognitive difficulties;granular osmiophilic deposits (GROD);palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range;1-3 pmoles/min/mg of protein);one allele carries an arg164-to-ter nonsense mutation resulting from a C-to-T substitution at nucleotide 490 ARG164TER (R164X) in exon 5 of the palmitoyl-protein thioesterase 1 (PPT1) gene

text: ARABIAN/MOROCCAN

text: Homo sapiens

text: Other

characteristic: race

text: Male

text: Palmitoyl-protein thioesterase 1

text: GM16107 male affected PPT1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND26680 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: IBR-BD Registry #1528/C12275;age of onset of 12 months;progressive motor difficulties;granular osmiophilic deposits (GROD);palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range;1-3 pmoles/min/mg of protein);compound heterozygote;one allele carries an arg151-to-ter nonsense mutation resulting from a C-to-T substitution at nucleotide 451 ARG151TER (R151X) in exon 5 of the palmitoyl-protein thioesterase 1 (PPT1) gene;a second allele carries a gly118-to-asp missense mutation resulting from a G-to-A transversion at nucleotide 353 GLY118ASP (G118D) .

characteristic: description

text: IRISH/NORWEGIAN

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Palmitoyl-protein thioesterase 1

text: GM16108 female affected PPT1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND26684 male affected Parkinson disease 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: IBR-BD Registry #1778/UT28-01;age of onset of 15 months;progressive cognitive/motor difficulties;granular osmiophilic deposits (GROD);palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range;1-3 pmoles/min/mg of protein);compound heterozygote;one allele carries an arg164-to-ter nonsense mutation resulting from a C-to-T substitution at nucleotide 490 ARG164TER (R164X) in exon 5 of the palmitoyl-protein thioesterase 1 (PPT1) gene;a second allele carries a gln 291-to-ter nonsense mutation resulting from a C-to-T substitution at nucleotide 871 GLN291TER (Q291X) in exon 9

text: Homo sapiens

characteristic: organism

text: African American

text: Female

text: Palmitoyl-protein thioesterase 1

text: GM16109 female affected PPT1 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 46 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND26689 male affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM16111 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND26708 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM16113 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND26720 female unaffected Control sample


text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM16115 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND26747 female unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM16117 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND26749 female unaffected Control sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 21 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM16118 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 74 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND26763 female affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM16119 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease

text: ND26764 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ukrainian Jewish;mother of an affected son (GM16152);has had three therapeutic abortions

characteristic: description

text: RUSSIAN

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Argininemia

characteristic: tag

text: GM16151 female unaffected Argininemia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND26772 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Argininemia

text: 18 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ukrainian Jewish;clinically affected;hyperammonemia;hyperargininemia;NH4 is elevated 274umol (11-35 norm);elevated arginine 213.2umol (10-14 norm)

text: RUSSIAN

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Argininemia

text: GM16152 male affected Argininemia sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 81 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND26787 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Cleft palate;grandson (GM16158) has cleft lip and cleft palate

text: SARDINIAN

text: grandmother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Orofacial cleft 1 ofc1

text: GM16156 female unaffected Orofacial cleft 1 ofc1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND26800 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Orofacial cleft 1 ofc1

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Cleft lip and cleft palate;three similarly affected maternal male cousins and one maternal aunt;mother and a maternal aunt have cleft palate;grandmother (GM16156) and two maternal aunts have cleft lip

characteristic: description

text: SARDINIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Orofacial cleft 1 ofc1

characteristic: tag

text: GM16158 male affected Orofacial cleft 1 ofc1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Control

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND26839 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: XPG

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: XP96TA;clinically affected with xeroderma pigmentosum and Cockayne syndrome;marked sun sensitivity;pigmentary changes;no skin cancers;hypertelorism;progressive neurological degeneration;weight loss;developmental delay;microcephaly;small stature;caf au lait spots on trunk;slight microphthalmia;prominent nasal bridge;high arched palate;deceased brother also affected;product of a consanguineous mating;donor subject is homozygous for a deletion of two bases (TC) at nucleotide 1116 (1116delTC) in exon 8 of the ERCC5 gene leading to a frameshift at codon 308 (L308fsX320) and the creation of a stop codon resulting in a truncated protein.

text: PALESTINIAN

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Xeroderma pigmentosum, complementation group g

text: Excision-repair: complementing defective in chinese hamster 5

text: XPG

text: GM16180 female affected XPG sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: Control

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND26855 male unaffected Control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: XPG

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP82DC;clinically affected with xeroderma pigmentosum and Cockayne syndrome;sun sensitivity;pigmentary changes;neurological degeneration;developmental delay;no skin cancers;death due to fulmanent liver failure at age 6 yr;<1% of normal DNA repair capability;microcephaly;ataxic with unsteady head-hand-eye coordination;donor subject is a compound heterozygote;one allele carries a C>T transition at nucleotide 243 (243C>T) in exon 1 of the ERCC5 gene resulting in a nonsense mutation at codon 16 GLN16TER (Q16X);the second allele carries a deletion of two bases (TG) at nucleotide 2801 (2801delTG) in exon 12 leading to a frameshift at codon 869 (869fsX879) and the creation of a stop codon downstream;both mutations are predicted to lead to severely truncated ERCC5 proteins.

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: XPG

text: GM16181 female affected XPG sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 54 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND26895 female 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: 2 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;breech birth;hypotonia;developmental delay;hypo-arelexic;alacrima;breath holding;misdirected swallows with some aspiration events;blotching with eating and excitement;hyperhidrosis;poor GI motility;lack of fungiform papillae;no gastrostomy tube;affected sister is GM16272;donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene;this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA

text: ASHKENAZI

characteristic: ethnicity

text: proband

text: IKBKAP

text: T>C

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Inhibitor of kappa light polypeptide gene enhancer in b cells

text: Kinase-complex associated protein

text: IKBKAP

text: GM16184 male affected Neuropathy, hereditary sensory and autonomic type iii sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND26896 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Basque country autochthonous population

characteristic: description

text: BASQUE

text: Homo sapiens

text: Caucasian

text: Male

text: Human variation panel - basque

text: Basque population

text: GM16185 male unaffected Basque population sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

text: ND26897 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Basque country autochthonous population

text: BASQUE

text: Homo sapiens

text: Caucasian

text: Female

text: Human variation panel - basque

characteristic: tag

text: Basque population

text: GM16186 female unaffected Basque population sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 10 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND26898 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Basque country autochthonous population

text: BASQUE

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Human variation panel - basque

text: Basque population

text: GM16188 male unaffected Basque population sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 57 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: More than one race

text: Male

text: ND26899 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Basque country autochthonous population

characteristic: description

text: BASQUE

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Human variation panel - basque

text: Basque population

text: GM16189 male unaffected Basque population sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND26900 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Basque country autochthonous population

text: BASQUE

text: Homo sapiens

text: Caucasian

text: Male

text: Human variation panel - basque

characteristic: tag

text: Basque population

text: GM16190 male unaffected Basque population sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 61 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: African American

text: Female

text: Parkinson disease

text: ND26903 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;foreskin;type II lissencephaly;congenital myotonic dystrophy;hydrocephalus indicated in utero by MRI;no aqueductal stenosis by post-natal MRI/CT;vermis hypoplasia;absent septum pellucidum;CPK = 2;200 u/ml;retinal exam showed vitreous hemorrhage but no pigmentary retinopathy;hypertonia;karyotype is 46;XY.ish 17(LIS1x2;RARAx2);donor is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 385 in exon 5 of the FKTN gene (c.385delA) resulting in a frameshift and creation of a stop at codon 129 (I129fsX1);the second allele has a C>A transversion at nucleotide 1176 in exon 10 (c.1176C>A) resulting in a stop at codon 392 Tyr392Ter (Y392X)

text: FKTN

characteristic: gene

text: 46;XY.ish 17(LIS1x2;RARAx2)

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fukutin

text: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type a, 4

text: FKTN

text: GM16192 male affected Mddga4 (walker-warburg syndrome included) sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: African American

characteristic: race

text: Female

text: ND26904 female 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: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;organomegaly;lung involvement;neurologically normal;Type B;acid sphingomyelinase enzyme levels < 2% of control;the donor subject is a compound heterozygote;one allele carries a G-to-T change at nucleotide 1487 (in a CpG dinucleotide) of the SPMD1 gene which results in an arginine-to-leucine amino acid substitution in residue 496 Arg496Leu (R496L);the second allele carries a 3-base deletion of nucleotides 1821-1823 which removes an arginine residue from position 608 (Arg608DEL);donor subject is also heterozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 Asn370Ser (N370S) codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

characteristic: description

text: ASHKENAZI

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GBA

text: Glucosidase acid beta

text: Niemann-pick disease type b

text: GM16193 male affected Sphingomyelin phosphodiesterase 1, acid lysosomal sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 19 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND26909 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Niemann-pick disease type a

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;organomegaly;neurological involvement;deceased;Type A;acid sphingomyelinase enzyme levels <1% of controls;the donor subject is homozygous for a T-to-C transition at nucleotide 905 (CTT>CCT) of the SPMD1 gene;resulting in a leucine-to-proline substitution at codon 302 LEU302PRO (L302P) .

text: ASHKENAZI

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Niemann-pick disease type a

text: Sphingomyelin phosphodiesterase 1, acid lysosomal

text: GM16195 male affected Niemann-pick disease type a sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 49 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Ashkenazi Jewish

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND26910 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 92 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Unaffected carrier;father of an affected son

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: FRDA

text: Friedreich ataxia 1

text: GM16198 male unaffected Friedreich ataxia 1 sample


text: Coriell

text: live

text: Generic

text: 20 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

characteristic: organism

text: American Indian

text: Female

text: Control

text: Population/convenience control

text: ND26945 female unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected carrier;mother of an affected son (GM16197);donor subject has one allele with GAA triplet repeat expansion of 830 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

characteristic: family id

text: mother

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

characteristic: tag

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16200 female unaffected FRDA sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: American Indian

text: Female

text: Control

text: Population/convenience control

text: ND26947 female unaffected Control sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: FRDA

text: 22 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;onset at 5 to 6 years of age;ataxia;areflexia;weakness;sensory loss;mild dysarthria;scoliosis;reduced visual acuity;hearing loss;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 450 and 640 repeats.

text: FXN

characteristic: gene

text: (GAA)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16201 female affected FRDA sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

characteristic: sex

text: ND26969 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected carrier;mother of an affected daughter (GM16203);donor subject has one allele with GAA triplet repeat expansion of 830 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

characteristic: description

text: mother

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16202 female unaffected FRDA sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: More than one race

text: Female

characteristic: tag

text: ND26971 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: FRDA

text: 29 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;onset at 6 years of age;ataxia;areflexia;sensory loss;dysarthria;scoliosis;hearing loss;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 670 and 830 repeats.

text: proband

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16203 female affected FRDA sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND26972 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: FRDA

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at 18 years of age;ataxia;areflexia;weakness;sensory loss;dysarthria;mild scoliosis;impaired glucose tolerance test;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 350 and 830 repeats.

text: proband

text: FXN

characteristic: gene

text: (GAA)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16204 female affected FRDA sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

text: Male

text: ND26973 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: FRDA

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at 12 years of age;ataxia;weakness;sensory loss;homozygous for the GAA expansion in the frataxin gene with both alleles of approximately 530 repeats.

characteristic: description

characteristic: family id

text: proband

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16205 male affected FRDA sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND26974 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: FRDA

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;onset at 11 years of age;ataxia;areflexia;weakness;sensory loss;scoliosis;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 640 and 670 repeats.

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16206 female affected FRDA sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND27005 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: FRDA

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;age of onset 23;ataxia;areflexia;weakness;sensory loss;dysarthria;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 280 and 830 repeats.

text: FXN

characteristic: gene

text: (GAA)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16207 female affected FRDA sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 17 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND27006 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: FRDA

text: 41 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;age of onset 10;ataxia;cardiomyopathy;areflexia;weakness;sensory loss;dysarthria;scoliosis;nystagmus;homozygous for the GAA expansion in the frataxin gene with both alleles of approximately 800 repeats.

characteristic: description

characteristic: family id

text: proband

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16209 female affected FRDA sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND27008 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: FRDA

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at 17 years of age;ataxia;areflexia;weakness;sensory loss;dysarthria;scoliosis;reduced visual acuity;hearing loss;homozygous for the GAA expansion in the frataxin gene with both alleles of approximately 580 repeats.

text: proband

text: FXN

characteristic: gene

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16210 male affected FRDA sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND27009 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 30 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected carrier;sibling of an affected individual;donor subject has one allele with GAA triplet repeat expansion of 830 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

text: FXN

text: (GAA)n EXPANSION

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16211 female unaffected FRDA sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 61 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND27038 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 63 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected carrier;mother of an affected son (GM16210);donor subject has one allele with GAA triplet repeat expansion of 500 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

characteristic: description

text: mother

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16212 female unaffected FRDA sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND27039 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 76 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected carrier;father of an affected daughter (GM16216);donor subject has one allele with GAA triplet repeat expansion of 420 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

text: father

text: FXN

characteristic: gene

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16213 male unaffected FRDA sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND27040 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: FRDA

text: 15 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at 9 years of age;ataxia;cardiomyopathy;areflexia;weakness;scoliosis;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 600 and 700 repeats.

characteristic: family id

text: proband

text: FXN

text: (GAA)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16214 male affected FRDA sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND27041 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected carrier;mother of an affected son (GM16214);donor subject has one allele with GAA triplet repeat expansion of 830 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

characteristic: description

text: mother

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

characteristic: tag

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16215 female unaffected FRDA sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 6 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND27042 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: FRDA

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 200 and 500 repeats.

text: proband

text: FXN

characteristic: gene

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16216 female affected FRDA sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND27043 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected carrier;father of an affected child;proband not in Repository;spouse of GM16219;donor subject has one allele with GAA triplet repeat expansion of 830 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

characteristic: family id

text: father

text: FXN

text: (GAA)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16218 male unaffected FRDA sample


text: Coriell

text: live

text: Generic

text: 25 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: African American

text: Female

characteristic: tag

text: ND27044 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected carrier;mother of an affected child;proband not in Repository;spouse of GM16218;donor subject has one allele with GAA triplet repeat expansion of 570 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

characteristic: description

text: mother

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16219 female unaffected FRDA sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

characteristic: race

text: Male

text: Tourette syndrome

text: ND27045 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: FRDA

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at 16 years of age;ataxia;areflexia;sensory loss;nystagmus;two distant cousins also affected;homozygous for the GAA expansion in the frataxin gene with both alleles of approximately 460 repeats.

text: FXN

characteristic: gene

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16220 male affected FRDA sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 49 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND27061 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: FRDA

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;onset at 19 years of age;ataxia;mitral valve prolapse;areflexia;sensory loss;dysarthria;scoliosis;brother and cousin are also affected;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 400 and 630 repeats.

characteristic: family id

text: proband

text: FXN

text: (GAA)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16223 male affected FRDA sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND27062 female affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected carrier;mother of an affected child;donor subject has one allele with GAA triplet repeat expansion of 830 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

characteristic: description

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: American Indian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16225 female unaffected FRDA sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND27109 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 60 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected carrier;maternal grandmother of an affected individual;donor subject has one allele with GAA triplet repeat expansion of 670 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

text: FXN

characteristic: gene

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16226 female unaffected FRDA sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 14 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND27110 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: FRDA

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at 13 years of age;ataxia;areflexia;weakness;sensory loss;scoliosis;affected sister is GM16228;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 630 and 830 repeats.

characteristic: family id

text: proband

text: FXN

text: (GAA)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16227 female affected FRDA sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 16 MO

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND27124 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: FRDA

text: 21 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at 12 years of age;ataxia;areflexia;weakness;scoliosis;nystagmus;affected sister is GM16227;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 670 and 830 repeats.

characteristic: description

text: sister

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16228 female affected FRDA sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND27126 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected carrier;mother of two affected daughters (GM16227 and GM16228);donor subject has one allele with GAA triplet repeat expansion of 670 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

text: mother

text: FXN

characteristic: gene

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16229 female unaffected FRDA sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Tourette syndrome

text: ND27127 female affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: FRDA

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;age of onset 7;ataxia;cardiomyopathy;areflexia;weakness;sensory loss;dysarthria;scoliosis;nystagmus;homozygous for the GAA triplet repeat expansion in the first intron of the frataxin gene with alleles of approximately 380 and 950 repeats.

text: FXN

text: (GAA)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16230 female affected FRDA sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 28 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Female

characteristic: tag

text: ND27135 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 69 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected carrier;father of an affected child;donor subject has one allele with GAA triplet repeat expansion of 380 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

characteristic: description

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16231 male unaffected FRDA sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 30 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND27136 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: 71 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father of an affected daughter (GM16209);for this donor subject the GAA triplet repeat expansion in the first intron of the frataxin gene is within the normal range for one allele and was undetectable in testing of the other allele

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: FRDA

text: Friedreich ataxia 1

text: GM16232 male unaffected Friedreich ataxia 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND27143 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: FRDA

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at 20 years of age;ataxia;cardiomyopathy;weakness;sensory loss;scoliosis;sister is also affected;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 580 and 1030 repeats.

text: FXN

characteristic: gene

text: (GAA)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16234 female affected FRDA sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND27148 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected carrier;affected cousin is GM16223;donor subject has one allele with GAA triplet repeat expansion of 1070 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

characteristic: description

text: first cousin

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16236 female unaffected FRDA sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 19 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: American Indian;Black/African Amer;Caucasian

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Other

characteristic: race

text: Male

text: Tourette syndrome

text: ND27149 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected carrier;mother of an affected son (GM16243);donor subject has one allele with GAA triplet repeat expansion of 700 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

text: mother

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16237 female unaffected FRDA sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 48 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND27152 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: FRDA

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;ataxia;areflexia;weakness;sensory loss;scoliosis;homozygous for the GAA expansion in the frataxin gene with both alleles of approximately 550 repeats.

text: FXN

characteristic: gene

text: (GAA)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Frataxin

characteristic: tag

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16238 male affected FRDA sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: More than one race

text: Female

text: ND27153 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected carrier;father of an affected son (GM16205);donor subject has one allele with GAA triplet repeat expansion of 800 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

characteristic: description

text: father

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16239 male unaffected FRDA sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

characteristic: organism

text: More than one race

text: Female

text: ND27154 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

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

text: father

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16240 male unaffected FRDA sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND27155 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected carrier;mother of affected child;donor subject has one allele with GAA triplet repeat expansion of 830 in the first intron of the frataxin gene and the 2nd allele has a # of GAA repeats within normal limits.

text: mother

text: FXN

characteristic: gene

text: (GAA)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16241 female unaffected FRDA sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND27156 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: FRDA

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;age of onset 12;ataxia;cardiomyopathy;areflexia;weakness;sensory loss;dysarthria;scoliosis;nystagmus;high frequency hearing loss;homozygous for the GAA triplet repeat expansion in the first intron of the frataxin gene with alleles of approximately 630 and 730 repeats.

characteristic: description

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16242 female affected FRDA sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

text: ND27157 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: FRDA

text: 23 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;age of onset 14;ataxia;cardiomyopathy;areflexia;weakness;sensory loss;dysarthria;scoliosis;reduced visual acuity;hearing loss;affected sister;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 670 and 1170 repeats.

text: proband

text: FXN

text: (GAA)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Frataxin

characteristic: tag

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16243 male affected FRDA sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Male

text: Tourette syndrome

text: ND27174 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: FRDA

text: 18 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at 9 years of age;ataxia;cardiomyopathy;areflexia;weakness;sensory loss;dysarthria;scoliosis;reduced visual acuity;homozygous for the GAA expansion in the frataxin gene with alleles of approximately 550 and 920 repeats.

text: FXN

characteristic: gene

text: (GAA)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Frataxin

text: FRDA

text: FXN

text: Friedreich ataxia 1

text: GM16244 female affected FRDA sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: More than one race

characteristic: race

text: Female

text: ND27175 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Hemoglobin--beta locus

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;sickle cell anemia;the donor subject is homozygous for an A-to-T transversion (GAG>GTG) at nucleotide 20 in exon 1 of the HBB gene which results in the substitution of valine for glutamic acid GLU6VAL (E6V) at codon 6;the genotype is homozygous Hb S (HbSS).

characteristic: description

text: HBB

text: Homo sapiens

characteristic: organism

text: African American

text: Male

text: Sickle cell anemia

text: Hemoglobin--beta locus

text: HBB

text: GM16265 male affected Hemoglobin--beta locus sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: More than one race

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND27177 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Hemoglobin--beta locus

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hemoglobin SC disease;the donor subject is a compound heterozygote;one allele carries a G-to-A transition (GAG>AAG) in the HBB gene which results in the substitution of lysine for glutamic acid GLU6LYS (E6K) at codon 6;the second allele has an A-to-T transversion (GAG>GTG) at nucleotide 20 in exon 1 of the HBB gene which results in the substitution of valine for glutamic acid GLU6VAL (E6V) at codon 6;the genotype is Hb SC.

text: HBB

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Sickle cell anemia

text: Hemoglobin--beta locus

text: HBB

text: GM16266 male affected Hemoglobin--beta locus sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND27194 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: The donor subject has sickle cell disease and beta-plus-thalassemia;two copies of the following mutation were identified: an A-to-T transversion (GAG>GTG) at nucleotide 20 in exon 1 of the HBB gene which results in the substitution of valine for glutamic acid GLU6VAL (E6V) at codon 6;the beta-plus-thalassemia mutation is not known.

text: HBB

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: African American

characteristic: race

text: Male

text: Sickle cell anemia

text: Hemoglobin--beta locus

text: HBB

text: GM16267 male unaffected Hemoglobin--beta locus sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND27195 female affected Epilepsy sample