text: Coriell

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND24454 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


status: PUBLIC

tag: attribute

characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: AT

text: 30 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: AT128AIV3;ataxia at age 1 1/2 years;telangiectasias at age 6;diagnosed at age 6;elevated AFP;donor subject is a compound heterozygote: the maternal allele of the ATM gene contains a nine bp deletion at nucleotide 7636 (7636del9) at codon 2547 in exon 54 which results in a deletion of three amino acids;the paternal allele carries a G-to-A transition (TGG-TAG) at nucleotide 170 (170G>A) which converts the trp-57 codon in exon 5 of the ATM gene to a nonsense codon TRP57TER (W57X) .

characteristic: description

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13652 male affected AT sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND24455 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Glycogen storage disease ii

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;adult onset;generalized muscle weakness;especially proximal limb muscles and abdominal muscles;good respiratory function;muscle biopsy showed about 5% of normal acid maltase activity;donor subject is a compound heterozygote: one allele has a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (c.-32-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon;exon 2;the second allele has a G>A transition at nucleotide 925 in exon 5 (c.925G>A) resulting in the substitution of arginine for glycine at codon 309 Gly309Arg (G309R)

text: GAA

text: T>G

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease ii

text: GM13653 female affected Glycogen storage disease ii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 52 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND24456 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: AT

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: AT399AIV2 (3204);ataxia at age 1 1/2 years;diagnosed at age 2;elevated AFP;donor subject is a compound heterozygote: the maternal allele carries a C-to-T transition (CGA>TGA) at nucleotide 8977 (8977C>T) which converts the arg-2993 codon in exon 64 of the ATM gene to a nonsense codon ARG2993TER (R2993X);the paternal allele contains a splicing mutation in exon 21.

characteristic: description

text: ATM

characteristic: gene

characteristic: mutation

text: splicing mutation in exon21

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13661 male affected AT sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: ND24463 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Familial cancer

text: 44 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 43;father and brother had colon cancer;maternal grandfather had liver cancer;and paternal grandmother had leukemia

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Familial cancer

text: GM13666 female affected Familial cancer sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24464 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Familial cancer

text: 61 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 59;mother had ovarian cancer and sister had colon cancer

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Familial cancer

text: GM13678 female affected Familial cancer sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND24465 female affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: Holt-oram syndrome

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Bilateral triphalangeal thumbs;atrial septal defect;septum secundum;first degree AV block;frequent PVCs;brother;mother;& grandmother were also affected;affected mother is GM13307 Fibroblast;46;XX in PBL

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Holt-oram syndrome

characteristic: tag

text: HOS

text: GM13681 female affected Holt-oram syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24467 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: AT

text: 7 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: AT400AIV3 (32360);diagnosed at age 7 years;elevated AFP;seizures;the maternal allele of the ATM gene contains a one bp deletion at nucleotide 3802 (3802delG) at codon 1268 in exon 28 which results in a frameshift and a truncated protein.

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13683 female affected AT sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND24469 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 25 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Hypotelorism;downward slant to palpebral fissures;large nose with bulbous tip;microdolichocephaly;& large ears;low birth weight;growth & developmental delay;moderate to severe mental retardation;abnormal toes

characteristic: description

characteristic: family id

text: proband

text: 46;XX;der(7)(7pter>7q36:: 9q34>9qter)mat.ish der(7)(D7Z1+;D7S427-;ABL+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM13685 female unaffected Copy number variation (cnv) refernece panel 02 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND24470 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 6 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal

text: sister

text: 46;XX;t(7;9)(7pter>7q36::9q34>9qter;9pter>9q34::7q36>7qter)mat.ish t(7;9) (D7Z1+;D7S427-;ABL+;D9Z1+;ABL-;D7S427+)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM13686 female unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND24471 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 16 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Severe midface hypoplasia;exophthalmos;microdolichocephaly;& large lowset ears;low birth weight;growth & developmental delay;microcephaly;cleft lip/ palate;tapering fingers/toes;abnormal muscle tone;mental retardation

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM13687 female unaffected Copy number variation (cnv) refernece panel 02 sample


text: Coriell

text: live

text: Generic

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND24472 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Small head;large ears;hypotelorism;midfacial hypoplasia;and downward slant to palpebral fissures;developmental delay

characteristic: description

text: brother

text: 46;XY;t(7;9)(7pter>7q36::9q34>9qter;9pter>9q34::7q36>7qter)mat.ish t(7;9) (D7Z1+;D7S427-;ABL+;D9Z1+;ABL-;D7S427+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM13688 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND24476 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Small head;large nose with bulbous tip;telecanthus;& downward slant to the eyes;developmental delay;ocular hypertelorism;ear malformations

text: mother

text: 46;XX;t(7;9)(7pter>7q36::9q34>9qter;9pter>9q34::7q36>7qter).ish t(7;9) (D7Z1+;D7S427-;ABL+;D9Z1+;ABL-;D7S427+)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM13689 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 66 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Male

text: ND24477 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: AT

text: 3 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: AT380AIV2 (3249);Hispanic;affected brother is GM13692;donor subject is a compound heterozygote: the maternal allele of the ATM gene contains a splicing site mutation (IVS64-2 A>G) at nucleotide 8988 in exon 65;the paternal allele also contains a splicing site mutation (IVS9+1 G>A) at nucleotide 901 in exon 9 which results in the deletion of 79 amino acids.

text: HISPANIC

characteristic: ethnicity

text: proband

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13691 male affected AT sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND24478 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: AT

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT380AIV1 (3246);Hispanic;affected brother is GM13691;donor subject is a compound heterozygote: the maternal allele of the ATM gene contains a splicing site mutation (IVS64-2 A>G) at nucleotide 8988 in exon 65;the paternal allele also contains a splicing site mutation (IVS9+1 G>A) at nucleotide 901 in exon 9 which results in the deletion of 79 amino acids.

characteristic: description

text: HISPANIC

text: brother

text: ATM

text: Homo sapiens

text: Caucasian

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13692 male affected AT sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 47 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24479 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;spouse & 3 children are affected

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy generalized idiopathic

text: EGI

text: GM13693 male unaffected Epilepsy generalized idiopathic sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND24480 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Epilepsy generalized idiopathic

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at age 11;generalized seizures;well controlled;EEG at age 59 was mildly abnormal because of the predominantly slow and irregular background rhythm as well as beta frequency activity;no seizure activity for 3 years prior to this EEG;medications at time of EEG include Mesantoin and Mysoline;3 children are also affected

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy generalized idiopathic

text: EGI

text: GM13694 female affected Epilepsy generalized idiopathic sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Female

characteristic: sex

text: Epilepsy

text: ND24483 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Myoclonic epilepsy, juvenile

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at age 11;generalized seizures;MRI at age 38 described slight prominence of the subarachnoid space anterior to the left temporal lobe;differential diagnosis including focal atrophy versus a small arachnoid cyst;EEG during a seizures showed a diffuse onset of generalized burst of spike and wave and poly spike and wave activity;mother;2 sibs;and 3 children are also affected

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Myoclonic epilepsy, juvenile

text: GM13695 female affected Myoclonic epilepsy, juvenile sample


text: Coriell

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND24484 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Familial cancer

text: 69 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 69;brother and maternal uncle had prostate cancer

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Familial cancer

text: GM13698 female affected Familial cancer sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24485 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Familial cancer

text: 45 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Puerto Rican;infiltrating ductal carcinoma;poorly diferentiated;lymphatic vascular invasion;mother also had breast cancer

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Familial cancer

text: GM13703 female affected Familial cancer sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Tourette syndrome

text: ND24486 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Positive family history;diagnosed at age 38;BRCA1 germline mutation is 3875del4 in exon 11;codon 1252

characteristic: gene

characteristic: mutation

text: 4-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: Breast cancer type 1

text: GM13705 female affected Breast cancer information core (bic) brca1/brca2 mutation panel dna samples sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Tourette syndrome

text: ND24491 female affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Breast cancer type 1

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Positive family history;diagnosed at age 39;BRCA1 germline mutation is 1294del40;in exon 11;codons 392-405

characteristic: description

text: 40-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Breast cancer type 1

text: GM13707 female affected Breast cancer type 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 24 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Vietnamese

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Asian

text: Male

text: Epilepsy

text: ND24492 male affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Breast cancer type 1

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Positive family history;diagnosed at age 32;BRCA1 germline mutation is 2187delA in exon 11 leading to a frameshift at codon 690 and a truncation at codon 700 (K690fsX700)

characteristic: gene

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Breast cancer type 1

text: GM13709 female affected Breast cancer type 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Vietnamese

characteristic: family id

text: mother

text: Homo sapiens

text: Asian

characteristic: race

text: Female

text: ND24493 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Breast cancer type 1

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Positive family history;diagnosed at age 53;BRCA1 germline mutation is Arg1443Gly;R1443G in exon 13;codon 1443

characteristic: description

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Breast cancer type 1

text: GM13710 female affected Breast cancer type 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 16 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND24504 female affected Epilepsy sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Breast cancer type 1

text: 75 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Positive family history;diagnosed at age 74;BRCA1 germline mutation is Ser1040Asn (S1040N) in exon 11;codon 1040

characteristic: gene

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Breast cancer type 1

text: GM13711 female affected Breast cancer type 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: More than one race

characteristic: race

text: Female

text: Epilepsy

text: ND24505 female affected Epilepsy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Breast cancer type 1

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Positive family history;diagnosed at age 43;BRCA1 germline mutation is 2274insA in exon 11 leading to a frameshift at codon 719 and a truncation at codon 725 (C719fsX725)

characteristic: description

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Breast cancer type 1

text: GM13712 female affected Breast cancer type 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 50 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND24524 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Breast cancer type 1

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Positive family history;breast cancer diagnosed at age 50 and ovarian cancer at age 56;BRCA1 germline mutation is Glu1250ter in exon 11;codon 1250

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Breast cancer type 1

text: GM13713 female affected Breast cancer type 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND24525 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Breast cancer type 1

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Positive family history;breast cancer diagnosed at age 25 and ovarian cancer at age 39;BRCA1 germline mutation is 5438insC in exon 21;codon 1773

characteristic: gene

text: 1-BP INS

text: Homo sapiens

text: Caucasian

text: Female

text: Breast cancer type 1

text: GM13714 female affected Breast cancer type 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND24526 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 56 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Positive family history;diagnosed at age 43;BRCA1 germline mutation is 5382insC in exon 20;codon 1755

characteristic: description

text: 1-BP INS

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Breast cancer type 1

text: GM13715 female affected Breast cancer information core (bic) brca1/brca2 mutation panel dna samples sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND24532 male 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 first public

text: live

text: Generic

text: DRPLA

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Hyperactivity & short attention span at age 7;at age 8 showed developmental & cognitive regression;significantly demented at age 12;recurrent generalized tonic-clonic seizures;DRPLA CAG expansion repeat alleles are 16 and 68

text: proband

text: DRPLA

text: (CAG)n EXPANSION

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: DRPLA

text: Dentatorubral-pallidoluysian atrophy

text: Drpla gene

text: GM13716 male affected DRPLA sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND24534 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: DRPLA

text: 47 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Progressive neurodegenerative disorder;ataxia;cognitive impairment;dementia;choreiform movements;and speech difficulties;seizure disorder at age 46;DRPLA CAG expansion repeat alleles are 15 and 65

characteristic: description

text: cousin

text: DRPLA

characteristic: gene

text: (CAG)n EXPANSION

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: DRPLA

text: Dentatorubral-pallidoluysian atrophy

text: Drpla gene

text: GM13717 male affected DRPLA sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND24539 male affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 1 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 13q- syndrome;digital anomalies;dysmorphic features

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Chromosome deletion

text: GM13721 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND24542 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 4 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;progressive intrahepatic cholestatic liver disease

characteristic: description

text: AMISH

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM13730 female affected Cholestasis, progressive familial intrahepatic 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: ND24544 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Atypical hypotonia cerebral palsy;mental retardation;delayed gross motor skills;loss of language skills at about 1 year of age;IQ is 30;exhibits some signs of autism

text: proband

text: 46;XY;t(7;15)(7qter>7p11::15p11> 15pter;15qter>15p11::7p11>7pter).ish t(7;15)(D7Z1+;D15Z-;D15Z+;D7Z1-)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM13732 male unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND24545 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 13 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mild cerebral palsy;moderate mental retardation;delayed gross motor skills;loss of language skills at about 1 year of age;IQ is 45

characteristic: description

text: brother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM13733 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 7 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND24546 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;2 sons have the same balanced translocation

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

characteristic: tag

text: GM13734 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Female

text: ND24547 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Atp synthase 6

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother and 3 sibs are also affected;developmental delay;dementia;ataxia;rod-cone dysfunction;vascular attenuation and peripheral mottling of the retinal pigment epithelium;homoplasmic mutant of ATPase 6 (MTATP6);mtDNA 8993 T>G Leu156Arg (L156R)

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Leigh syndrome

text: Atp synthase 6

text: GM13740 male affected Atp synthase 6 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 41 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: Female

text: ND24548 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Atp synthase 6

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Chronic metabolic acidosis;muscle OXPHOS studies showed marked instability of mitochondrial inner membrane;3 affected generations in pedigree;heteroplasmic for the MTATP6*NARP8993 8993T>G;Leu156Arg (L156R) mutation;approximately 95% of mtDNA is mutant

characteristic: description

text: Homo sapiens

text: Other

characteristic: race

text: Male

text: Leigh syndrome

text: Atp synthase 6

text: GM13741 male affected Atp synthase 6 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Other

text: Male

characteristic: sex

characteristic: tag

text: ND24552 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Adult;clinically normal

text: proband

text: 46;XX;t(5;8)(5qter>5p14::8p23>8pter;8qter>8p23::5p14>5pter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM13743 female unaffected Translocated chromosome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 40 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND24553 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Adult;mental retardation;seizures

characteristic: description

text: sister

text: 46;XX;der(8)(8qter>8p23:: 5p14>5pter)mat;46;XX;der(8)(8qter>8p23::5p14>5pter)mat;46;XX;der(8)(8qter>8p23::5p14>5pter)mat.ish der(8)(D5S23+;EGR1-)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM13744 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: caucasian mother and hispanic father mix

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

text: Tourette syndrome

text: ND24554 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy generalized idiopathic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at age 11;generalized grand mal seizures;1 seizure every few years;on Dilantin;Depakote;and Mysoline;mother;2 siblings;and 2 neices are also affected

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy generalized idiopathic

characteristic: tag

text: EGI

text: GM13750 male affected Epilepsy generalized idiopathic sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND24555 female affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: AT

text: 3 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT401AIV2;diagnosed at one year of age;donor subject is a compound heterozygote: the maternal allele of the ATM gene contains a one bp insertion at nucleotide 6997 (6997insA) at codon 2333 in exon 50 which results in a frameshift and a truncated protein;the paternal allele contains two missense mutations: a TG-to-AA transversion at nucleotide 8565 in exon 60 converting the ser-2855 codon (AGT) to an arg codon (AGA) SER2855ARG (S2855R) and the val-2856 codon to an ile codon VAL2856ILE (V2856I) .

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13762 male affected AT sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND24556 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Familial cancer

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 43;infiltrating ductal carcinoma of the left breast;mother had cervical cancer;two sisters had skin cancer;and a maternal aunt had bilateral breast cancer

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Familial cancer

text: GM13764 female affected Familial cancer sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND24557 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: AT

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: AT403AIV3;diagnosed at ten years of age;donor subject is a compound heterozygote: the maternal allele of the ATM gene contains a two bp insertion at nucleotide 6405 (6405 insTT) at codon 2136 in exon 46 which results in a frameshift and a truncated protein;the paternal allele of the ATM gene contains a splicing site mutation (IVS62+1 G>A) which results in the skipping of exon 62;a frameshift and truncation.

text: ATM

text: Homo sapiens

text: Caucasian

text: Female

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13765 female affected AT sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND24558 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Cancer of the breast, familial

text: 78 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Infiltrating poorly differentiated ductal carcinoma;lumpectomy at age 78;subject has hx of cervical cancer;positive family hx for cancer;mother had an abdominal malig at age 47;bro had prostate ca;& a bro & sis had unknown malig

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: BCS

text: Cancer of the breast, familial

text: GM13767 female affected Cancer of the breast, familial sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND24563 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;mother & 3 sibs are affected

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy generalized idiopathic

text: EGI

text: GM13768 male unaffected Epilepsy generalized idiopathic sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND24564 female affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 6 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: In stroller at age 5;telangiectasias of eyes;ears;face;& back since age 4;also has coast of Maine spots

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13774 male affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

characteristic: tag

text: ND24565 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;a son;GM13818;has oxalosis;type I;spouse of GM13787

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Oxalosis types i or ii

text: Glycolic or glyceric aciduria - 259900 or 260000

text: GM13780 male unaffected Oxalosis types i or ii sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND24569 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Aneuploid chromosome number - trisomy

text: 2 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Salient features of Down syndrome with an abnormal cry;subject originally described by submitter as having a 47;XX;+21/47;XX;del(5)(p14) karyotype in blood;culture grows very slowly

characteristic: description

text: HISPANIC

characteristic: ethnicity

text: 47;XX;+21;47;XX;+21.arr 21q11.2q22.3(13286389-46887579)x3

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Trisomy 21

text: Aneuploid chromosome number - trisomy

text: Copy number variation (cnv) reference panel

text: GM13783 female affected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND24574 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: AT

text: 8 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: AT314AIV2;ataxia at age 1 year;telangiectasias at age 2;diagnosed at age 2;elevated AFP;donor subject is a compound heterozygote: the maternal allele carries a C-to-T transition (CAG>TAG) at nucleotide 5515 which converts the gln-1839 codon in exon 39 of the ATM gene to a nonsense codon GLN1839TER (Q1839X);the paternal allele contains a one bp insertion at nucleotide 5712 (5712 insA) at codon 1905 in exon 40 which results in a frameshift and a truncated protein.

text: ATM

characteristic: gene

text: 5712 insA

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13785 male affected AT sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND24575 male affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Cancer of the breast, familial

text: 53 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Two primary breast cancers at ages 47 & 52;daughter had breast cancer at age 35;sister had ovarian cancer at age 45;paternal aunt had breast cancer at age 36;paternal grandfather had throat cancer

characteristic: description

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: BCS

text: Cancer of the breast, familial

text: GM13786 female affected Cancer of the breast, familial sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND24576 male unaffected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 34 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Japanese;clinically unaffected;a son;GM13818;has oxalosis;type I;spouse of GM13780

text: JAPANESE

text: mother

text: Homo sapiens

text: Asian

text: Female

text: Oxalosis types i or ii

text: GM13787 female unaffected Oxalosis types i or ii sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 6 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND24577 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Cancer of the breast, familial

text: 64 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Infiltrating moderately differentiated ductal carcinoma;intraductal carcinoma;comedo and cribriform types;lumpectomy at age 64;mother had colon cancer

text: IRISH/POLISH

text: Homo sapiens

text: Caucasian

text: Female

text: BCS

characteristic: tag

text: Cancer of the breast, familial

text: GM13789 female affected Cancer of the breast, familial sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND24578 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Cancer of the breast, familial

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Inflammatory breast cancer;right breast at age 39;left breast at age 47;mother;maternal aunt;and maternal grandmother had breast cancer

characteristic: description

text: IRISH/GERMAN

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: BCS

text: Cancer of the breast, familial

text: GM13790 female affected Cancer of the breast, familial sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND24579 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: AT

text: 29 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: AT322AIV5;diagnosed at age 2 years;elevated AFP;the paternal allele of the ATM gene contains a one bp insertion at nucleotide 4742 (4742 insA) at codon 1581 in exon 33 which results in a frameshift and a truncated protein.

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13791 female affected AT sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND24580 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: AT

text: 26 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;wheelchair-bound and eye telangiectasias since age 4 to 5 yr;no history of recurrent infections;donor subject has a G>A change in intron 28 of the ATM gene (IVS28+1G>A) resulting in a cryptic 3' splice leading to the in-frame deletion of 40 codons (120 bp) from codon 1292 to 1331;a second mutation was not reported

characteristic: description

text: ARMENIAN

characteristic: ethnicity

text: ATM

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13792 male affected AT sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND24581 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Glycogen storage disease ii

text: 12 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;deficient acid-alpha-1;4 glucosidase activity (0.5%);donor subject is a compound heterozygote: one allele has an A>G transition at position -2 of the acceptor site of intron 1 of the GAA gene (c.-32-2A>G);the second allele has a G>A transition at nucleotide 877 in exon 5 resulting in the substitution of arginine for glycine at codon 293 Gly293Arg (G293R)

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease ii

text: GM13793 female affected Glycogen storage disease ii sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 14 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND24582 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Ataxia-telangiectasia

text: 14 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Onset at age 2;diagnosed at age 4;wheelchair-dependent at age 8;telangiectasias since age 4 present on shoulders;face;eyes;arms;back;and ears;IgA reduced and IgM elevated;non-Hodgkins T-cell lymphoma at age 12

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13801 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND24584 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: AT

text: 18 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;diagnosed at age 4 yr;telangiectasias since age 4 yr present on legs and conjunctiva;elevated serum AFP;reduced IgA;chromosomes show increased spontaneous breakage;wheelchair-dependent at age 10 yr;donor subject has a 2 bp deletion at nucleotide 2284 in exon 17 of the ATM gene (2284delCT) resulting in a frameshift at codon 762 and a truncation (L762fsX);a second mutation was not reported

text: ATM

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13802 male affected AT sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Asian

text: Male

characteristic: tag

text: ND24587 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Ataxia-telangiectasia

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 1;telangiectasias since age 4 present on eyes and ears;elevated serum AFP;sister is also affected

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13803 male affected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 31 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: More than one race

text: Female

text: ND24588 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 9 months;telangiectasias since age 4 present on eyes;ears;and cheeks;elevated serum AFP;brother is also affected

characteristic: description

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: GM13804 female affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 7 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: More than one race

text: Male

text: Epilepsy

text: ND24589 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: AT

text: 3 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT394AIV1;Ataxia at age 1 1/2 years;diagnosed at one year of age;elevated AFP;donor subject is a compound heterozygote: the maternal allele of the ATM gene carries a T-to C transition at nucleotide 1229 which converts the val-410 codon to an ala codon Val410Ala (V410A);resulting in a missense mutation in exon 11;a second allele carries a 20 bp deletion and a 2 bp insertion at nucleotide 6736 (6736del20 ins2) which results in protein truncation.

text: ATM

characteristic: gene

text: 6736del20 ins2

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13805 female affected AT sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

characteristic: tag

text: ND24591 female affected Epilepsy sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Cancer of the breast, familial

text: 45 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Ductal invasive cancer and ductal carcinoma in situ;mother had esophageal cancer;paternal uncle had prostate cancer;paternal aunt had lymphoma;and another paternal uncle had lung cancer

characteristic: description

text: Homo sapiens

text: Black

text: Female

text: BCS

text: Cancer of the breast, familial

text: GM13806 female affected Cancer of the breast, familial sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinsonism, other

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Progressive supranuclear palsy

text: Parkinsonism, other

text: ND24597 male affected Parkinsonism, other sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Ataxia-telangiectasia

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: American Indian/Caucasian;diagnosed at age 10;telangiectasias since age 4 present on eyes;elevated serum AFP;recurrent sinus infections;elevated IgA

text: Homo sapiens

text: Other

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM13810 female affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND24598 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 8;telangiectasias since age 6 present on eyes;neck;legs;ears;arms;and chest;elevated serum AFP;wheelchair-dependent at age 10;recurrent upper respiratory infections;reduced IgA and IgE;elevated IgM;brother also affected

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM13811 male affected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND24599 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Ataxia-telangiectasia

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 6;telangiectasias since age 6 present on eyes;ears;and arms;wheelchair-dependent at age 10;elevated serum AFP;reduced IgA and IgE;brother;GM13811A;is also affected

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13812 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND24600 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 2;chromosomes show increased spontaneous breakage;recurrent otitis media & rhinitis;elevated IgE;normal IgA;IgG;& IgM

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: GM13813 male affected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND24606 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Ataxia-telangiectasia

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 2;telangiectasias since age 2 present on eyes & hands;began using wheelchair at age 9;wheelchair dependent at age 16

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13814 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND24607 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Ataxia-telangiectasia

text: 14 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 9;telangiectasias since age 9 present on back;neck;chest;& arms;began using a wheelchair at age 9;brother;GM13816;is also affected

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13815 male affected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND24608 male affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 6;telangiectasias since age 6 present on back & neck;bebegan using a wheelchair at age 9;brother;GM13815;is also affected

characteristic: description

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13816 male affected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

text: ND24610 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: XP22BE;Korean;skin lesions including squamous cell carcinoma and melanomas;mild developmental & significant speech delays;growth below the fifth percentile;hyperactivity with delayed motor development and absent speech;persistent low levels of glycine in the blood;increased levels of valine;isoleucine;leucine;methionine;and tyrosine in the blood and urine;the donor subject is homozygous for a T>G transversion in the splice donor site of exon 9 in the XPC gene (IVS9+2T>G) which results in three different mRNA isoforms: isoform I has a loss of exon 9;isoform II has an insertion of exons 9b and 9a;and isoform III has a deletion of exon 9 and an insertion of exon 9a.

text: KOREAN

characteristic: ethnicity

text: XPC

characteristic: gene

characteristic: mutation

text: T>G

text: Homo sapiens

text: Asian

text: Male

text: XPC

text: GM13817 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 14 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Other

text: Female

text: Epilepsy

characteristic: tag

text: ND24613 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Oxalosis types i or ii

text: 10 MO

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Japanese/Caucasian;urine metabolic screening by GC/MS showed elevated lactic & oxalic acid;presence of glycolic acid;& absence of glyceric acid;pt received liver & kidney transplant at age 1 yr;parents are GM13780 & GM13787

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Other

text: Male

text: Oxalosis types i or ii

text: Glycolic or glyceric aciduria - 259900 or 260000

text: GM13818 male affected Oxalosis types i or ii sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND24614 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Ataxia-telangiectasia

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 8;telangiectasias since age 8 present on eyes & ears;began using a wheelchair at age 8;chromosomes show increased spontaneous breakage & SCEs;elevated serum AFP;reduced IgA & IgE

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13819 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Italian

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND24624 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Ataxia-telangiectasia

text: 9 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 8;telangiectasias since age 8 present on & under eyes;chromosomes show increased spontaneous breakage;elevated serum AFP;reduced IgA

text: Homo sapiens

text: Caucasian

text: Female

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM13859 female affected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Italian

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND24625 female 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: Ataxia-telangiectasia

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 7;eye telangiectasias since age 7;began using a wheelchair at age 7;elevated serum AFP;normal IgA;IgE;IgG;and IgM

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13860 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: Italian

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND24626 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: AT

text: 18 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;neonatal hypotonia;telangiectasias since age 6 yr present on eyes and ears;wheelchair-dependent at age 8 yr;elevated serum AFP;donor subject has a 4 bp deletion in intron 59 of the ATM gene (IVS59+1del4) resulting in an in-frame skipping of exon 59 leading to the deletion of 50 codons at codon 2758 (D2758del50);a second mutation was not reported

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13861 male affected AT sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND24629 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: AT

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 7 yr;eye telangiectasias since age 7 yr;began using a wheelchair at age 8 yr;wheelchair-dependent at age 9 yr;donor subject has a 3 bp deletion in intron 19 of the ATM gene (IVS19-21del3) resulting in the skipping of exon 20 and a resultant frameshift and truncation;a second mutation was not reported

text: ATM

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13862 female affected AT sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

text: ND24639 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Cancer of the breast, familial

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Poorly differentiated invasive ductal carcinoma;mother & maternal aunt had breast cancer

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: BCS

text: Cancer of the breast, familial

text: GM13863 female affected Cancer of the breast, familial sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND24640 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Breast cancer

text: 57 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Bilateral mastectomies;1 breast with 3 masses showed adenocarcinoma;2nd breast showed 1 suspicious mass;negative family history for cancer

text: Homo sapiens

text: Caucasian

text: Female

text: Sporadic

characteristic: tag

text: Breast cancer

text: GM13864 female affected Breast cancer sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Female

text: ND24641 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Ataxia-telangiectasia

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 20 months;ear telangiectasias since age 30 months;elevated serum AFP;reduced IgA and IgG and elevated IgM;recurrent high fevers;chromosomes do not show increased breakage;sister is also affected

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13866 male affected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND24643 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Ataxia-telangiectasia

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 3;telangiectasias present on eyes and ears since age 4;elevated serum AFP;reduced IgA and IgG and elevated IgM;recurrent sinus infections;chromosomes do not show increased breakage;brother;GM13866;is also affected

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM13867 female affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 3 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND24646 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: AT

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 18 mo;telangiectasias since age 4 yr present on eyes;ears;and shoulders;began using wheelchair at age 8 yr;wheelchair-dependent at age 12 yr;recurrent bronchitis;reduced IgA;donor subject has a C>T change at nucleotide 3049 in exon 22 of the ATM gene (3049C>T) resulting in a truncation Gln1016Ter (Q1016X);a second mutation was not reported

characteristic: description

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13868 male affected AT sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 14 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND24647 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Cancer of the breast, familial

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mastectomy at age 37;brother has Hodgkins disease & a sister had breast cancer at age 37

text: Homo sapiens

text: Caucasian

text: Female

text: BCS

text: Cancer of the breast, familial

text: GM13869 female affected Cancer of the breast, familial sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 58 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND24649 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Cancer of the breast, familial

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Infiltrating moderately differentiated ductal carcinoma and ductal carcinoma in situ;mother had lung cancer;father had lymphoma;and sister had breast cancer at age 39

characteristic: description

text: ITALIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: BCS

text: Cancer of the breast, familial

text: GM13870 female affected Cancer of the breast, familial sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 20 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND24650 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Ataxia-telangiectasia

text: 13 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 5;eye telangiectasias since age 3;began using wheelchair at age 10;wheelchair-dependent at age 12;elevated serum AFP;recurrent sinusitis & pneumonia;reduced IgA;chromosomes show increased spontaneous breakage

text: Homo sapiens

text: Caucasian

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM13871 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND24651 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 18 mos;eye telangiectasias present since age 10;elevated serum AFP;reduced IgE & IgG;chromosomes show increased spontaneous breakage

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM13872 male affected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND24652 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Ataxia-telangiectasia

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 15 months;telangiectasias since age 3 present on eyes;ears;and subclaven area;elevated serum AFP;reduced IgA and IgE;absent IgG;elevated IgM;recurrent respiratory infections;chromos show increased spontaneous breakage

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM13873 female affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND24653 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Ataxia-telangiectasia

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Diagnosed at age 18 mos;telangiectasias since age 6 present on eyes;ears;& cheeks;elevated serum AFP;chromosomes show increased spontaneous breakage

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM13878 female affected Ataxia-telangiectasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive supranuclear palsy

characteristic: tag

text: ND24654 female affected Progressive supranuclear palsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: AT

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed at age 7 yr;telangiectasias since age 6 yr present on elbows;neck;and eyes;began using wheelchair at age 6 yr;wheelchair-dependent at age 18 yr;recurrent infections;reduced IgA and IgG;elev IgM;chromosomes show increased spontaneous breakage;donor subject is homozygous for a 4 bp deletion in intron 59 of the ATM gene (IVS59+1del4) resulting in the in-frame skipping of exon 59 leading to the deletion of 50 codons at codon 2758 (D2758del50)

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM13879 female affected AT sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 3 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Asian

text: Female

text: Epilepsy

text: ND24657 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Orofacial cleft 1 ofc1

text: 54 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Unilateral cleft lip & cleft palate;normal intelligence;no other anomalies;2 paternal uncles & 3 paternal cousins are also affected

characteristic: description

text: ENGLISH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Orofacial cleft 1 ofc1

text: GM13880 female affected Orofacial cleft 1 ofc1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: bangladesh

text: father

text: Homo sapiens

text: Asian

text: Male

characteristic: tag

text: ND24658 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Ataxia-telangiectasia

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 6;conjunctiva telangiectasias since age 6;elev serum AFP;began using wheelchair at age 9;wheelchair-dependent at age 10;reduced IgA;IgG subclass 2 def;recurrent respir infects;chromos show inc spontan breakage

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM13882 female affected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: bangladesh

characteristic: family id

text: mother

text: Homo sapiens

text: Asian

text: Female

text: ND24659 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 11 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Diagnosed at age 4;telangiectasias since age 7 present on eyes and face;wheelchair-dependent at age 9;recurrent ear;sinus;and lung infections till age 8;brother is also affected

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM13883 female affected Ataxia-telangiectasia sample


text: Coriell

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

characteristic: race

text: Female

characteristic: sex

text: ND24661 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected sib of 2 affected sibs

characteristic: description

text: sister

text: Homo sapiens

text: Asiatic Indian

text: Female

text: GM13885 female unaffected Low-ggt progressive familial intrahepatic cholestasis (not further characterized) sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: More than one race

text: Male

text: ND24662 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected parent of 2 affected children;spouse of GM13887

text: father

text: Homo sapiens

text: Asiatic Indian

text: Male

characteristic: tag

text: GM13886 male unaffected Low-ggt progressive familial intrahepatic cholestasis (not further characterized) sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Progressive supranuclear palsy

text: 66 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND24668 male affected Progressive supranuclear palsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 38 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected parent of 2 affected children;spouse of GM13886

characteristic: family id

text: mother

text: Homo sapiens

text: Asiatic Indian

text: Female

text: GM13887 female unaffected Low-ggt progressive familial intrahepatic cholestasis (not further characterized) sample


text: Coriell

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

text: Female

text: ND24684 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Orofacial cleft 1 ofc1

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Unilateral cleft lip & cleft palate;4 generations with cleft lip & cleft palate in pedigree;some individuals with only cleft lip or cleft palate & some individuals;including mother;with congenital missing incisors

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Orofacial cleft 1 ofc1

text: GM13893 female affected Orofacial cleft 1 ofc1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND24685 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Cleft palate, isolated

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Cleft of the soft palate;negative family history for cleft palate or other anomalies

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Cleft palate, isolated

text: CPI

text: GM13894 male affected Cleft palate, isolated sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: More than one race

text: Female

text: Epilepsy

text: ND24686 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Orofacial cleft 1 ofc1

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Bilateral cleft lip & palate;2 cousins have unilateral cleft lip

text: Homo sapiens

text: Caucasian

text: Male

text: Orofacial cleft 1 ofc1

text: GM13895 male affected Orofacial cleft 1 ofc1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

characteristic: tag

text: ND24692 female affected Tourette syndrome sample