text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Breast cancer 2, early-onset

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Medullary carcinoma of left breast at age 31;family history: father with skin cancer;mother with thyroid cancer;and three sisters with breast cancer;a 2bp deletion in the BRCA2 gene (5946delCT) in exon 11 results in a frameshift beginning at codon 1908 and terminating at codon 1909 (H1908fsX1909)

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Breast cancer 2, early-onset

text: GM14624 male affected Breast cancer 2, early-onset sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 69 YR

tag: attribute

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: ash j

characteristic: ethnicity

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND25508 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Breast cancer 2, early-onset

text: 37 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Intraductal Comedo-type(70%)/ infiltrating ductal carcinoma(30%) of right breast;family history: mother and 2 aunts with breast cancer;2 aunts with cervical cancer;and 3 uncles with cancer;a germline mutation at nucleotide 10204A>T in exon 27 results in a nonsense codon at 3326 (Lys3326ter;K3326X)

characteristic: description

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: Breast cancer information core (bic) brca1/brca2 mutation panel dna samples

text: Breast cancer 2, early-onset

text: GM14626 female affected Breast cancer 2, early-onset sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND25513 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Hemochromatosis

text: 51 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Serum ferritin 1470 ng/ml;serum iron 256 mcg/dl;transferrin saturation 83%;liver biopsy revealed no fibrosis;4+ iron stain;history of acute progranulocytic leukemia at 35;negative for the C282Y and H63D mutations of the HFE gene

text: Homo sapiens

text: Caucasian

text: Male

text: Hemochromatosis

text: HFE

text: GM14628 male affected Hemochromatosis sample


text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: wife

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: ND25514 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Hemochromatosis

text: 49 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Serum ferritin 704 ng/ml;serum iron 202 mcg/dl;transferrin saturation 65%;liver biopsy revealed no fibrosis;4+ iron stain;cardiac dysfunction;pat cou also aff;homozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene

text: HFE

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Hemochromatosis

text: HFE

text: Human gene mutation panel - hemochromatosis

text: GM14631 female affected Hemochromatosis sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: ND25520 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 21;128 pounds;dizygotic twin sister is GM14633;dizygotic using 20 STRs

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14632 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 69 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND25521 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 21;121 pounds;dizygotic twin sister is GM14632;dizygotic using 20 STRs

text: twin sister

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14633 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25522 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Prostate cancer diagnosed at age 65;family history includes two daughters with breast cancer;frameshift mutation in BRCA1 gene is 4184del4 in exon 11;codon 1357

text: NORWEGIAN

characteristic: ethnicity

characteristic: gene

characteristic: mutation

text: 4-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

text: Breast cancer type 1

text: GM14634 male affected Breast cancer information core (bic) brca1/brca2 mutation panel dna samples sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 71 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Male

characteristic: tag

text: ND25523 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed with breast cancer at age 50;family history includes 2 half-sisters;3 nieces;and a daughter with breast cancer;a 1bp insertion at nucleotide 5677 in exon 24 (5677insA) results in a frameshift and truncation at codon 1853 (Y1853X)

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Breast cancer type 1

text: GM14636 female affected Breast cancer information core (bic) brca1/brca2 mutation panel dna samples sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: French Canadian (more than half);Ashkenazi Jewish

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND25527 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed with breast cancer at age 43;family history includes 2 sisters;a maternal aunt;and 7 maternal cousins with breast cancer;nonsense mutation in BRCA1 gene is Arg1443ter (R1443X) in exon 13;codon 1443

text: FRENCH CANADIAN

characteristic: ethnicity

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: Breast cancer type 1

text: GM14637 female affected Breast cancer information core (bic) brca1/brca2 mutation panel dna samples sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 51 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: French Canadian;1/4th Ashkenazi Jewish

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND25528 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed with cancer of the left breast at age 29 and in the right breast at age 33;family history includes three paternal aunts and two paternal cousins with either breast or ovarian cancer;BRCA1 germline mutation is a T>G substitution in intron 5 (332-11T>G) resulting in a splice alteration leading to a 59bp insertion in the message adastop at codon 75

characteristic: description

text: ENGLISH/GERMAN

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Breast cancer type 1

text: GM14638 female affected Breast cancer information core (bic) brca1/brca2 mutation panel dna samples sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: French Canadian (more than 1/2)

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND25529 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi Jewish;clinically unaffected;family history includes mother;maternal grandmother;sister;and 4 maternal aunts with breast cancer;a frameshift mutation in BRCA2 gene in exon 11 (6426delTT) results in a stop at codon 2076 (V2066fsX2076)

text: ASHKENAZI

characteristic: ethnicity

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: Breast cancer information core (bic) brca1/brca2 mutation panel dna samples

text: Breast cancer 2, early-onset

text: GM14639 female unaffected Breast cancer 2, early-onset sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Progressive supranuclear palsy

text: 79 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

characteristic: tag

text: ND25536 female affected Progressive supranuclear palsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Hemochromatosis

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Asymptomatic;father is affected;serum ferritin 398 ng/ml;serum iron 197 mcg/ dl;at liver biopsy 2+ iron stain;homozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene

characteristic: description

text: proband

text: HFE

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Hemochromatosis

text: HFE

text: GM14640 male affected Hemochromatosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 79 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND25537 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;affected son is GM14640 and affected spouse is GM14646;serum ferritin 31 ng/ml;serum iron 123 mcg/dl;donor subject is a compound heterozygote: allele one carries a G>A transition at nucleotide 845 in exon 4 of the HFE (HLA-H) gene 845G>A resulting in a substitution of a tyrosine for a cysteine at codon 282 Cys282Tyr (C282Y);allele two carries a C>G transversion at nucleotide 187 in exon 2 of the HFE (HLA-H) gene 187C>G resulting in a substitution of aspartic acid for histidine at codon 63 His63Asp (H63D);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)

text: mother

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: Factor v deficiency

text: Hemochromatosis

text: HFE

text: GM14641 female unaffected Factor v deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 38 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: ND25542 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 20;125 pounds

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14643 male unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND25544 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Hemochromatosis

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;serum ferritin 2090 ng/ml;serum iron 201 mcg/dl;transferrin saturation 86%;liver biopsy revealed no fibrosis;3+ iron stain;affected son is GM14640;homozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene

characteristic: family id

text: father

text: HFE

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Hemochromatosis

text: HFE

text: GM14646 male affected Hemochromatosis sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Female

text: Unrelated condition upon exam

text: Parkinson disease

text: ND25551 female affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 27;195 pounds

text: Homo sapiens

text: Caucasian

text: Male

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14648 male unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND25553 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 24;150 pounds

characteristic: description

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14649 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 69 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND25563 female affected Progressive supranuclear palsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;affected brother is GM14640 and affected father is GM14646;serum ferritin 101 ng/ml;serum iron 131 mcg/dl;compound heterozygote for the Cys282Tyr and His63Asp mutations (C282Y/ H63D) of the HFE (HLA-H) gene;heterozygous for a guanine-to-adenine substitution at nucleotide 1691 of the Factor V (F5) gene resulting in a replacement of arg506 (CGA) by gln (CAA) ARG506GLN (R506Q) or G1691A .

text: sister

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Factor v deficiency

text: Hemochromatosis

text: HFE

text: GM14650 female unaffected Human gene mutation panel - hemochromatosis sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 70 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: husband

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND25564 male unaffected Population/convenience control sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Hemochromatosis

text: 43 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Serum ferritin 3532 ng/ml;serum iron 217 mcg/dl;transferrin saturation 85%;at liver biopsy 4+ iron stain;associated HCV infection;homozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene

text: HFE

text: Homo sapiens

text: Caucasian

text: Male

text: Hemochromatosis

characteristic: tag

text: HFE

text: GM14651 male affected Hemochromatosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive supranuclear palsy

text: 73 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Progressive supranuclear palsy

text: ND25565 female affected Progressive supranuclear palsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Hemochromatosis

text: 54 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Serum ferritin 636 ng/ml;serum iron 109 mcg/dl;at liver biopsy 2-3+ iron stain;compound heterozygote for the Cys282Tyr and His63Asp mutations (C282Y/ H63D) of the HFE (HLA-H) gene

characteristic: description

text: HFE

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: Hemochromatosis

text: HFE

text: GM14652 male affected Hemochromatosis sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 21 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND25569 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;mother of 3 affected sons;affected son is GM14653;1 allele carries the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene;second allele is negative for the C282Y and H63D (His63Asp) mutations

text: mother

text: HFE

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Hemochromatosis

text: HFE

text: GM14654 female unaffected Hemochromatosis sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 19 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND25570 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;father of 3 affected sons;affected son is GM14653;1 allele carries the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene;second allele is negative for C282Y and H63D (His63Asp) mutations

text: father

text: HFE

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Hemochromatosis

text: HFE

text: GM14655 male unaffected Hemochromatosis sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25580 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Hemochromatosis

text: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;diagnosed at age 55;serum ferritin 850 ng/ml;serum iron 190 mcg/dl;transferrin saturation 92%;liver biopsy showed no fibrosis;3+ iron stain;homozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene

characteristic: description

text: HFE

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Hemochromatosis

text: HFE

text: GM14657 female affected Hemochromatosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND25581 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;donor reports four African-American grandparents

text: Homo sapiens

text: Black

text: Female

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM14660 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 1 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND25582 female affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Black

text: Female

text: Apparently healthy non-fetal tissue

text: GM14661 female unaffected Apparently healthy non-fetal tissue sample


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: African American

text: Male

characteristic: sex

text: ND25584 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 package

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 21;131 pounds

characteristic: description

text: sister

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14662 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 17 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25585 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Homo sapiens

text: Black

text: Female

text: Apparently healthy non-fetal tissue

text: GM14663 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Female

characteristic: tag

text: ND25586 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 20;125 pounds

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14664 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND25597 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: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM14665 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 17 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25598 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 20;137 pounds

characteristic: description

text: sister

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14666 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND25605 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Northern European;3 Irish grandparents;paternal grandfather was Dutch

text: IRISH

characteristic: ethnicity

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM14667 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

characteristic: tag

text: ND25606 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 22;127 pounds

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14671 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND25607 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Female

text: Apparently healthy non-fetal tissue

text: GM14672 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 82 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25608 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 29;143 pounds

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14673 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND25609 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 21 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 20;108 pounds

text: Homo sapiens

text: Caucasian

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14676 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25610 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 29;145 pounds

characteristic: description

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14679 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25611 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 18;117 pounds

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14680 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: wife

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND25612 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 24;139 pounds

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14681 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC first public

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: Female

text: Progressive supranuclear palsy

text: ND25618 female affected Progressive supranuclear palsy sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;donor reports four African-American grandparents

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Black

text: Female

text: Apparently healthy non-fetal tissue

text: GM14682 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND25619 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM14683 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND25620 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 72 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Breast cancer diagnosed at age 55;ovarian cancer diagnosed at age 65;family history includes a daughter;sister;and mother with breast cancer;frameshift mutation in BRCA1 gene is 916delTT in exon 11;at codon 266 leading to a stop codon at codon 285 (E266fsX285)

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Breast cancer type 1

text: GM14684 female affected Breast cancer information core (bic) brca1/brca2 mutation panel dna samples sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 27 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25621 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Hemochromatosis

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 37;serum ferritin 3590 ng/ml;serum iron 267 mcg/dl;transferrin saturation 78%;liver bx showed extensive iron overload & cirrhosis;mother also aff;homozyg for Cys282Tyr mut (C282Y) of the HFE (HLA-H) gene

characteristic: description

text: HFE

text: Homo sapiens

text: Caucasian

text: Male

text: Hemochromatosis

text: HFE

text: GM14685 male affected Hemochromatosis sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

characteristic: race

text: Male

text: ND25623 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

characteristic: NCBI submission package

text: Hemochromatosis

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diag at age 41;serum ferritin 1282ng/ml;serum iron 82 mcg/dl;transferrin saturation 33%;liver biopsy revealed marked deposition;but no fibrosis;1 allele carries His63Asp mut (H63D) of HFE (HLAH) gene;2nd is negative for C282Y and H63D mutation

text: HFE

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: Hemochromatosis

characteristic: tag

text: HFE

text: GM14686 male affected Hemochromatosis sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND25638 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 35 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 24;178 pounds

text: 46;XY;t(8;10)(8pter>8q12::10q21.1>10qter;10pter>10q21.1::8q12>8qter)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14687 male unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25639 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Hemochromatosis

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;norm liver function tests;serum ferritin 470 ng/ml;serum iron 187-223 mcg/dl;liver biopsy revealed no fibrosis;2-3+ iron stain;homozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene

characteristic: description

text: HFE

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Hemochromatosis

text: HFE

text: GM14688 male affected Hemochromatosis sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND25649 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Hemochromatosis

text: 28 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;diagnosed at age 22;serum ferritin 162 ng/ml;serum iron 185 mcg/ dl;transferrin saturation 69%;liver bx confirmed diagnosis;homozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene

text: proband

text: HFE

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Hemochromatosis

text: HFE

text: GM14689 female affected Hemochromatosis sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25652 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;mother of an affected child;GM14689;one allele carries the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene;second allele is negative for the C282Y and H63D (His63Asp) mutations

characteristic: description

text: mother

text: HFE

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Hemochromatosis

text: HFE

text: GM14690 female unaffected Hemochromatosis sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Asian

characteristic: race

text: Female

text: ND25665 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 58 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;father of an affected child;GM14689;treated for Hodgkin's disease;compound heterozygote for Cys282Tyr and His63Asp mutations (C282Y/ H63D) of the HFE (HLA-H) gene;no iron studies performed

text: father

text: HFE

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: Hemochromatosis

characteristic: tag

text: HFE

text: GM14691 male unaffected Hemochromatosis sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

text: ND25666 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 26;155 pounds

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Non-obese controls

text: GM14693 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND25667 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 27;190 pounds

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14694 male unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 21 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25668 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;donor reports four African-American grandparents

text: Homo sapiens

text: Black

text: Female

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM14696 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND25670 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 21;120 pounds

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14697 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25671 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 18;103 pounds

characteristic: description

text: sister

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14698 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 6 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: ND25672 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 29 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 22;146 pounds

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14699 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND25673 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Apparently healthy non-fetal tissue

text: GM14700 female unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25674 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 71 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Extensive dermatolesions;numerous malignant melanomas;basal cell cancers & squamous cell cancers

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM14701 male affected Xeroderma pigmentosum, complementation group c sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25676 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: PI

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Serum ferritin 1526 ng/ml;serum iron 151 mcg/dl;transferrin saturation 92%;cirrhosis and history of alcoholism;awaiting new liver;heterozy alpha-1-antitrypsin;Pi type MZ in serum;donor subject is MZ;the Z allele results from a G>A transition at nucleotide 9989 in exon 5 of the SERPINA1 gene 9989G>A resulting in a substitution of lysine for glutamic acid at codon 342 Glu342Lys (E342K);negative for C282Y and H63D mutations of the HFE (HLA-H) gene

text: PI

characteristic: gene

text: GLU342LYS ON M1A

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Hemochromatosis

text: HFE

text: PI

text: Protease inhibitor 1

text: GM14702 male affected PI sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 44 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND25678 male affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Hemochromatosis

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Serum ferritin 1272 ng/ml;serum iron 223 mcg/dl;transferrin saturation 95%;liver iron 3049 mg/gm;compound heterozygote for the Cys282Tyr and His63Asp mutations (C282Y/H63D) of the HFE (HLAH) gene

text: HFE

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Hemochromatosis

characteristic: tag

text: HFE

text: GM14703 male affected Hemochromatosis sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND25679 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 22 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 25;191 pounds

characteristic: description

text: sister

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14704 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

text: Female

text: ND25680 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Hemochromatosis

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 64;serum ferritin 471 ng/ml;serum iron 296 mcg/dl;transferrin saturation 94%;liver biopsy revealed iron overload;but no fibrosis;homozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene

text: HFE

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Hemochromatosis

text: HFE

text: GM14712 female affected Hemochromatosis sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 31 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND25681 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Hemochromatosis

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;diagnosed at age 47;serum ferritin 642 ng/ml;serum iron 216 mcg/ dl;transferrin saturation 70%;liver bx revealed iron overload & early cirrhosis;homozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene

text: HFE

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Hemochromatosis

characteristic: tag

text: HFE

text: GM14715 male affected Hemochromatosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 2 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25682 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Neuronal intranuclear inclusion disease

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Chest pain;dysphagia & regurgitation;hx of dementia & paranoid behavior requiring hospitalization;visceral neuropathy with intestinal pseudo-obstruction;thin;CT scan showed diffuse loss of supra- & infratentorial brain matter

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Neuronal intranuclear inclusion disease

text: GM14717 male affected Neuronal intranuclear inclusion disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 7 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25683 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 35 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 24;137 pounds

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14720 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND25687 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Leopard syndrome

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;pulmonic stenosis surgically repaired at age 4 years;unilateral herniorraphy at ages 6 and 7 years;severe scoliosis;scoliosis repair at age 15 years with placement of Harrington rod;surgical repair of defective mitral valve at age 23 years;first seizure at age 23 years;unilateral sensorineural deafness;strabismus;recurrent mitral and pulmonic insufficiency diagnosed via echocardiogram;normocephalic with long face;ears measure 6 cm (50th percentile) and are low-set and posteriorly rotated;high;narrow palate;malar hypoplasia;pectus carinatum;numerous 1-2 mm lentigines on face and trunk;2 cm cafe-au-lait spot overlying left shulder;axillary freckles;armspan 145 cm;lower segment 78 cm;palm and hand measure 10.5 cm and 18 cm;respectively;hyperextensibility of IP joint;decreased extension of elbows and decreased external rotation of hips;at age 34 years height approximately 54 inches;weight = 39 kg (50th percentile for 12 years;head circumference 56 cm (50th percentile);see GM14729 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Leopard syndrome

text: GM14728 male affected Leopard syndrome sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND25688 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Leopard syndrome

text: 34 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;pulmonic stenosis surgically repaired at age 4 years;unilateral herniorraphy at ages 6 and 7 years;severe scoliosis;scoliosis repair at age 15 years with placement of Harrington rod;surgical repair of defective mitral valve at age 23 years;first seizure at age 23 years;unilateral sensorineural deafness;strabismus;recurrent mitral and pulmonic insufficiency diagnosed via echocardiogram;normocephalic with long face;ears measure 6 cm (50th percentile) and are low-set and posteriorly rotated;high;narrow palate;malar hypoplasia;pectus carinatum;numerous 1-2 mm lentigines on face and trunk;2 cm cafe-au-lait spot overlying left shulder;axillary freckles;armspan 145 cm;lower segment 78 cm;palm and hand measure 10.5 cm and 18 cm;respectively;hyperextensibility of IP joint;decreased extension of elbows and decreased external rotation of hips;at age 34 years height approximately 54 inches;weight = 39 kg (50th percentile for 12 years;head circumference 56 cm (50th percentile);see GM14728 Lymphoblast

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Leopard syndrome

text: GM14729 male affected Leopard syndrome sample


text: Coriell

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND25694 male unaffected Control sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Obligate heterozygote;mother of affected son;GM14734;donor subject has one allele with a full deletion of the CYP21A2 gene

text: mother

characteristic: gene

text: DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: GM14732 female unaffected Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 70 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND25695 female unaffected Control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Obligate heterozygote;father of affected son;GM14734;donor subject has one allele with a 30 kb deletion of the CYP21A2 gene

characteristic: description

text: father

text: 30-KB DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM14733 male unaffected Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 8 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND25701 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;requires hormone replacement therapy for salt-wasting variety of CAH;donor subject is a compound heterozygote: one allele has a 30 kb deletion of the CYP21A2 gene;a second allele has a deletion of the entire gene

characteristic: family id

text: proband

text: 30-KB DEL

text: DEL

text: Homo sapiens

text: Caucasian

text: Male

text: GM14734 male affected Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 30 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: British

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25702 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 23;125 pounds

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14746 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease

text: ND25710 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 27;181 pounds

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14753 male unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND25718 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 18 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 23;168 pounds

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14754 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 49 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: More than one race

text: Male

text: Tourette syndrome

text: ND25720 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 24;143 pounds

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14755 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

text: 48 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

text: ND25722 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 25;175 pounds

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14771 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Progressive supranuclear palsy

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Caucasian

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

characteristic: tag

text: ND25729 male affected Progressive supranuclear palsy sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 29;225 pounds

text: Homo sapiens

text: Black

text: Male

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14772 male unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 64 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND25730 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Ataxia-telangiectasia

text: 8 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Eye and face telangiectasias and ataxia observed at age 7;began using wheelchair at age 8;chromosome studies showed spontaneous breakage;elevated AFP;constant sinusitis

text: GERMAN/CZECH

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM14779 male affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

text: ND25733 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;affected son is GM14717 and affected husband is GM14781

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Neuronal intranuclear inclusion disease

characteristic: tag

text: GM14780 female unaffected Neuronal intranuclear inclusion disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND25734 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Neuronal intranuclear inclusion disease

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hx of stomach cramps since childhood;dyspepsis;anorexia;chronic gastritis;rectal biopsy showed abundant submucosal neurons;rare neurons contained intranuclear inclusions;parents were consanguineous;affected son is GM14717

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Neuronal intranuclear inclusion disease

text: GM14781 male affected Neuronal intranuclear inclusion disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 30 MO

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mixed-lithuanian/bolivian

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25739 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 29;210 pounds

text: Homo sapiens

text: Caucasian

text: Male

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14782 male unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: lithuanian

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25740 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 38;218 pounds

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14783 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: bolivian

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND25741 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Breast cancer 2, early-onset

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Breast cancer;family history includes two sisters with breast cancer;a germline mutation in exon 7 (810G>A) results in a nonsense mutation Trp194ter;W194X)

characteristic: description

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Breast cancer 2, early-onset

characteristic: tag

text: GM14805 female affected Breast cancer 2, early-onset sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 58 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND25777 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 26;154 pounds

text: Homo sapiens

text: Caucasian

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14807 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND25778 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 27;185 pounds

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14811 male unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: wife

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND25779 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 24 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Sparse;short brittle hair;hypodontia and anodontia;scanty eyebrows and lower lashes;triangular facies;anteverted pinnae;cleft lip and soft palate;abnormal scalp;hyperkeratosis;cutaneous syndactyly of hands;see GM14818 Fibroblast;donor subject is homozygous for a G>A transition in exon 3 of the PVRL1 gene (TGG>TAG) resulting in the substitution of a termination signal for tryptophan at codon 185 Trp185Ter (W185X) and truncation of the MECTIN-1 protein

text: HISPANIC

characteristic: ethnicity

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Cleft lip/palate - ectodermal dysplasia syndrome

text: Poliovirus receptor-like 1

text: GM14817 male affected PVRL1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND25780 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Sparse;short brittle hair;hypodontia and anodontia;scanty eyebrows and lower lashes;triangular facies;anteverted pinnae;cleft lip and soft palate;abnormal scalp;hyperkeratosis;cutaneous syndactyly of hands;see GM14817 Lymphoblast;donor subject is homozygous for a G>A transition in exon 3 of the PVRL1 gene (TGG>TAG) resulting in the substitution of a termination signal for tryptophan at codon 185 Trp185Ter (W185X) and truncation of the MECTIN-1 protein

text: HISPANIC

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Poliovirus receptor-like 1

text: GM14818 male affected PVRL1 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND25782 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;Japanese

characteristic: description

text: JAPANESE

characteristic: ethnicity

text: Homo sapiens

text: Asian

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM14819 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 7 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: Tourette syndrome

text: ND25783 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;Puerto Rican

text: PUERTO RICAN

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: GM14820 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25784 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 18;107 pounds

text: Homo sapiens

text: Black

characteristic: race

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14826 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25785 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 25;158 pounds

characteristic: description

text: Homo sapiens

text: Black

text: Female

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14837 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Progressive supranuclear palsy

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND25787 male affected Progressive supranuclear palsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Hemochromatosis

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 38;serum ferritin 5065 ng/ml;serum iron 165 mcg/dl;transferrin saturation 97%;liver biopsy revealed fibrosis;hypogonadism;brother is also aff;homozyg for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene

text: HFE

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Hemochromatosis

text: HFE

text: GM14857 male affected Hemochromatosis sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: wife

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND25788 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 18;105 pounds

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

characteristic: race

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14862 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Progressive supranuclear palsy

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Progressive supranuclear palsy

characteristic: tag

text: ND25789 male affected Progressive supranuclear palsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 24 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 19;108 pounds

characteristic: description

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14863 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: wife

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND25790 female unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 18;110 pounds

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14864 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 78 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease

text: ND25792 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 7 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP67TMA;Turkish;clinically affected;affected sister is GM14869;skin lesions onset at age 1 yr;skin carcinomas;atrophy;telangiectasias;actinic keratosis;freckles;hypopigmentation;no neurological abnormalities;deceased at age 10;consanguinity;donor subject is homozygous for a C>T nonsense mutation in exon 8 at nucleotide 1840 (1840C>T) which converts the CGA codon of arginine at amino acid 579 to a UGA stop codon resulting in marked truncation at codon 940 in the XPC gene

text: TURKISH

characteristic: ethnicity

characteristic: family id

text: proband

text: XPC

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: XPC

text: GM14867 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND25793 male affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP68TMA;Turkish;clinically affected;affected brother is GM14867;skin lesions onset at age 6 mos;skin carcinomas;atrophy;telangiectasias;actinic keratosis;freckles;hypopigmentation;consanguinity;donor subject is homozygous for a C>T nonsense mutation in exon 8 at nucleotide 1840 (1840C>T) which converts the CGA codon of arginine at amino acid 579 to a UGA stop codon resulting in marked truncation at codon 940 in the XPC gene

characteristic: description

text: TURKISH

text: sister

text: XPC

text: Homo sapiens

text: Caucasian

text: Female

text: XPC

text: GM14869 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

text: Male

text: ND25797 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP69TMA;Turkish;clinically affected;squamous cell carcinomas;see GM14871A Fibroblast;skin legions onset at age 1 yr;atrophy;telangiectasias;actinic keratosis;freckles;hypopigmentation;consanguinity;donor subject is homozygous for a 6 bp deletion at nucleotide 1395 in exon 8 of the XPC gene (1395_1400delTAAAGA) resulting in the deletion of codon 430 and the creation of a termination codon

text: TURKISH

characteristic: ethnicity

characteristic: family id

text: proband

text: XPC

characteristic: gene

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: XPC

text: GM14870 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND25798 female affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP69TMA;Turkish;clinically affected;squamous cell carcinomas;see GM14870A Lymphoblast;skin legions onset at age 1 year;atrophy;telangiectasias;actinic keratosis;freckles;hypopigmentation;consanguinity;donor subject is homozygous for a 6 bp deletion at nucleotide 1395 in exon 8 of the XPC gene (1395_1400delTAAAGA) resulting in the deletion of codon 430 and the creation of a termination codon

text: TURKISH

text: proband

text: XPC

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: XPC

text: GM14871 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

text: ND25801 female affected Progressive supranuclear palsy sample


text: Coriell

text: live

text: Generic

text: Xeroderma pigmentosum, variant type

text: 8 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: XP71TMA;Turkish;clinically affected;affected sister is GM15697;skin legions onset at age 3 yrs;skin carcinomas;atrophy;telangiectasias;actinic keratosis;freckles;hypopigmentation;consanguinity

characteristic: description

text: TURKISH

characteristic: ethnicity

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Xeroderma pigmentosum, variant type

text: XPV

text: GM14875 male affected Xeroderma pigmentosum, variant type sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 61 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND25802 male unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 17 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: XP72TMA;Turkish;clinically affected;affected sisters are GM14878 and GM15723;see GM14877 Fibroblast;skin legions onset at age 3 yrs;skin carcinomas;freckles;consanguinity;unscheduled DNA synthesis 66-72% of normal;donor subject is homozygous for an A>G transition in intron 3 of the XPC gene (IVS3-24A>G) which results in expression of both an mRNA of short size and the wild type size;the shorter mRNA has a skipped exon 4 which results in a frameshift and premature termination

text: TURKISH

text: proband

text: XPC

characteristic: gene

text: A>G

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: XPC

text: GM14876 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND25815 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 16 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP72TMA;Turkish;clinically affected;affected sisters are GM14879 and GM15723 Lymphoid;see GM14876A Lymphoid;skin legions onset at age 3 years;skin carcinomas;freckles;consanguinity;unscheduled DNA synthesis 66-72% of normal;donor subject is homozygous for an A>G transition in intron 3 of the XPC gene (IVS3-24A>G) which results in expression of both an mRNA of short size and the wild type size;the shorter mRNA has a skipped exon 4 which results in a frameshift and premature termination

characteristic: description

text: TURKISH

text: proband

text: XPC

text: A>G

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: XPC

text: GM14877 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND25816 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP73TMA;Turkish;clinically affected;affected sisters are GM14876 and GM15723;see GM14879 Fibroblast;skin legions onset at age 5 yrs;skin carcinomas;freckles;consanguinity;donor subject is homozygous for an A>G transition in intron 3 of the XPC gene (IVS3-24A>G) which results in expression of both an mRNA of short size and the wild type size;the shorter mRNA has a skipped exon 4 which results in a frameshift and premature termination

text: TURKISH

characteristic: ethnicity

characteristic: family id

text: sister

text: XPC

text: A>G

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: XPC

text: GM14878 female affected Xeroderma pigmentosum, complementation group c sample