text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

text: ND25206 male affected Epilepsy sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Multiple vascular disruption syndrome

tag: attribute

text: 6 MO

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Guatemalan;no family history;bilateral corneal opacities;microcephaly;partial agenesis of corpus callosum;polymicrogyria;gastroesophageal reflux;Peters' anomaly with segmental atresia and stenosis of small bowel and complex neuronal migration deficiency;normal male karyotype

characteristic: description

text: GUATEMALAN

characteristic: ethnicity

text: Homo sapiens

text: Hispanic/Latino

characteristic: race

text: Male

characteristic: sex

text: Multiple vascular disruption syndrome

characteristic: tag

text: GM14427 male affected Multiple vascular disruption syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25207 female affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Glycogen storage disease ii

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;adult onset;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 (IVS1-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon;exon 2;the second allele has a G>T transversion at nucleotide 1912 (c.1912G>T) resulting in the substitution of tryptophan for glycine at codon 638 Gly638Trp (G638W)

text: PUERTO RICAN

text: GAA

characteristic: gene

characteristic: mutation

text: T>G

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Glycogen storage disease ii

text: GM14428 male affected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 32 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND25218 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 23;122 pounds;monozygotic twin sister is GM14433;monozygotic using 28 STRs

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

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

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14432 female unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND25235 female affected Tourette syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 34;174 pounds;monozygotic twin sister is GM14432;monozygotic using 28 STRs

characteristic: family id

text: twin sister

text: Homo sapiens

text: Caucasian

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14433 female unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND25236 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Glycogen storage disease ii

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;juvenile onset;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 (IVS1-13T>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 877 in exon 5 (c.877G>A) resulting in the substitution of arginine for glycine at codon 293 Gly293Arg (G293R)

text: GAA

characteristic: gene

characteristic: mutation

text: T>G

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease ii

text: GM14434 male affected Glycogen storage disease ii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 26 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND25237 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 18;108 pounds;monozygotic twin sister is GM14440;monozygotic using 20 STRs

characteristic: description

text: proband

text: Homo sapiens

text: Black

characteristic: race

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14439 female unaffected Monozygotic twin pairs sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Progressive supranuclear palsy

text: 82 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

characteristic: tag

text: ND25244 male affected Progressive supranuclear palsy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 19;122 pounds;monozygotic twin sister is GM14439;monozygotic using 20 STRs

characteristic: family id

text: twin sister

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14440 female unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 66 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND25245 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 28;210 pounds;asthma;dyzygotic twin brother is GM14442;dyzygotic using 28 STRs

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14441 male unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

text: ND25251 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Asthma;dyzygotic twin brother is GM1444;dyzygotic using 28 STRs

characteristic: description

text: twin brother

text: Homo sapiens

text: Black

text: Male

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14442 male unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25252 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Glycogen storage disease ii

text: 60 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;adult onset;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 (IVS1-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon;exon 2;the second allele has a G>T transversion at nucleotide 1912 (c.1912G>T) resulting in the substitution of tryptophan for glycine at codon 638 Gly638Trp (G638W)

text: GAA

characteristic: gene

characteristic: mutation

text: T>G

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Glycogen storage disease ii

text: GM14445 male affected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND25257 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: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Monozygotic twin sister is GM14448;monozygotic using 28 STRs

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

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

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14447 female unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND25258 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: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 23;154 pounds;monozygotic twin sister is GM14447;monozygotic using 28 STRs

characteristic: description

text: twin sister

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14448 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25259 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: AT

text: 17 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;eye telangiectasias with onset at 5 yr;began using a wheelchair at age 10 yr;donor subject has a 2 bp deletion at nucleotide 7705 in exon 54 of the ATM gene (7705delGA) resulting in a frameshift at codon 2569 and a truncation (D2569fsX);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: GM14451 male affected AT sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND25265 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 23;139 pounds;mother has hypertension;monozygotic twin sister is GM14453

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14452 female unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 11 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Caucasian + 12.5% American Indian;Fr-Can

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

text: Tourette syndrome

text: ND25276 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 23;138 pounds;mother has hypertension;monozygotic twin sister is GM14452

characteristic: description

text: twin sister

text: Homo sapiens

text: Caucasian

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14453 female unaffected Monozygotic twin pairs sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: white + 25% american indian

characteristic: ethnicity

text: mother

text: Homo sapiens

text: More than one race

text: Female

text: ND25277 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 22;123 pounds;family history of diabetes;monozygotic twin sister is GM14455;monozygotic using 28 STRs

characteristic: family id

text: proband

text: Homo sapiens

text: Black

characteristic: race

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14454 female unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: white + 12.5% american indian

text: brother

text: Homo sapiens

text: More than one race

text: Male

text: ND25278 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 21;118 pounds;family history of diabetes;monozygotic twin sister is GM14454;monozygotic using 28 STRs

text: twin sister

text: Homo sapiens

characteristic: organism

text: Black

text: Female

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

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14455 female unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 42 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Serbian

text: father

text: Homo sapiens

text: Other

text: Male

text: ND25281 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Glycogen storage disease ii

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;adult onset;severe generalized muscle weakness and wasting;severe respiratory insufficiency;muscle biopsy showed acid maltase deficiency;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 (IVS1-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon;exon 2;the second allele has a 1 bp deletion at nucleotide 366 in exon 2 (c.366delT) resulting in a frameshift and protein truncation Gln124SerfsX18)

characteristic: description

text: HISPANIC

characteristic: ethnicity

text: proband

text: GAA

characteristic: gene

characteristic: mutation

text: T>G

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease ii

text: GM14463 female affected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: Serbian

characteristic: family id

text: mother

text: Homo sapiens

text: Other

characteristic: race

text: Female

characteristic: sex

text: ND25282 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: GM14465 is the monozygotic twin sister of this donor;monozygotic using 20 STRs

text: proband

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14464 female unaffected Monozygotic twin pairs sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Serbian

text: proband

text: Homo sapiens

text: Other

text: Female

text: Tourette syndrome

characteristic: tag

text: ND25283 female affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 26;150 pounds;monozygotic twin sister is GM14464A;monozygotic using 20 STRs

characteristic: description

text: twin sister

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14465 female unaffected Monozygotic twin pairs sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND25298 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 18;113 pounds;family history of diabetes and asthma;monozygotic twin sister is GM14468;monozygotic using 28 STRs

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14467 female unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Subject: Puerto Rico| Parents: Unknown

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Other

text: Male

text: Epilepsy

text: ND25299 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 18;120 pounds;family hx of diabetes & asthma;monozygotic twin sister is GM14467;monozygotic using 28 STRs

text: twin sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14468 female unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 9 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25300 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: AT

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;eye telangiectasias with onset at 10 yr;began using a wheelchair and was wheelchair-dependent at age 10 yr;at age 28 yr bone marrow and bone biopsies revealed preleukemic condition;prone to infections;affected brother is GM14472;donor subject is a compound heterozygote: one allele has an A>C change in intron 53 of the ATM gene (IVS53-2 A>C) resulting in the in-frame skipping of exon 54 leading to a deletion of 53 codons beginning at codon 2544 (L2544del53);the second allele has a G>A change in intron 62 (IVS62+1 G>A) resulting in the skipping of exon 62;a frameshift at codon 2891 and a truncation (G2891fsX)

text: proband

text: ATM

characteristic: gene

text: IVS53-2 A>C

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM14471 female affected AT sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND25301 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: AT

text: 27 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;eye telangiectasias with onset at 9 yr;began using a wheelchair at age 10 yr;wheelchair-dependent at age 11 yr;prone to bronchitis;pneumonia and urinary infections;affected sister is GM14471;donor subject is a compound heterozygote: one allele has an A>C change in intron 53 of the ATM gene (IVS53-2 A>C) resulting in the in-frame skipping of exon 54 leading to a deletion of 53 codons beginning at codon 2544 (L2544del53);the second allele has a G>A change in intron 62 (IVS62+1G>A) resulting in the skipping of exon 62;a frameshift at codon 2891 and a truncation (G2891fsX)

characteristic: description

text: brother

text: ATM

text: IVS53-2 A>C

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM14472 male affected AT sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 32 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND25309 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 23;144 pounds;monozygotic twin sister is GM14475A;monozygotic using 20 STRs

text: proband

text: Homo sapiens

text: Black

text: Female

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

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14474 female unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: ND25310 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 22;131 pounds;monozygotic twin sister is GM14474;monozygotic using 20 STRs

characteristic: family id

text: twin sister

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14475 female unaffected Monozygotic twin pairs sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND25329 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 26;155 pounds;monozygotic twin sister is GM14477;monozygotic using 20 STRs

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14476 female unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25330 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 26;157 pounds;monozygotic twin sister is GM14476;monozygotic using 20 STRs

text: twin sister

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14477 female unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND25336 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 32;188 pounds;monozygotic twin sister is GM14479;monozygotic using 28 STRs

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14478 female unaffected Monozygotic twin pairs sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25337 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 27;171 pounds;monozygotic twin sister is GM14478;monozygotic using 28 STRs

text: twin sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14479 female unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25338 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 23;138 pounds;mother is a diabetic;monozygotic twin sister is GM14481

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Female

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

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14480 female unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 32 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND25349 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 25;143 pounds;mother is a diabetic;monozygotic twin sister is GM14480

text: twin sister

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14481 female unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Glycogen storage disease ii

text: 61 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;adult onset);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 (IVS1-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon;exon 2;the second allele has a C>T transition at nucleotide 172 in exon 2 (c.172C>T) resulting in a stop at codon 58 Gln58Ter (Q58X)

text: GAA

characteristic: gene

characteristic: mutation

text: T>G

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Glycogen storage disease ii

text: GM14484 male affected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

characteristic: tag

text: ND25350 female affected Tourette syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 16 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Microcephaly;'Greek helmut facies' with wide nares;sml orbits;micrognathia;bilateral low-set ears;short neck;prob contracture abnors;bilat shortening of 1st & 5th toes;bilat clinodactyly of 5th finger;small placenta

text: 46;XX;der(4)(qter>p15.32::p15.32:: p15.1:).ish der(4)(wcp4+;D4S96-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Inverted duplication deletion

text: GM14489 female unaffected Inverted duplication deletion sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 9 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25351 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 17 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Amenorrhea;near normal IQ;easily distracted and anxious;coarse hair;facial asymmetry;clinodactyly of the 5th finger bilaterally;multiple pigmented nevi on arms and trunk;de novo duplication of 8p23.1>8p23.3

characteristic: description

text: SCOTTISH/ENGLISH

characteristic: ethnicity

text: proband

text: 46;XX;der(8)(:p22>p23.1::p23.1>qter).ish der(8)(wcp8+;D8S596-;RP4-580L5-;RP11-666I19-;RP11-90O17++;RP11-89M8+;RP11-138J2+)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Derivative chromosome

text: GM14490 female unaffected Derivative chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: ND25355 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY;father of GM14490 {46;XX;dup(8) (p23.1p23.3)}

text: father

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Apparently healthy non-fetal tissue

text: GM14492 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25356 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 46 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 30;189 pounds;monozygotic twin sister is GM14496A;monozygotic using 20 STRs

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Female

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

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14495 female unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND25357 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 28;187 pounds;monozygotic twin sister is GM14495;monozygotic using 20 STRs

text: twin sister

text: Homo sapiens

characteristic: organism

text: Black

text: Female

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14496 female unaffected Human variation panel - african american panel of 100 (version 2) sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 17 YR

text: B-Lymphocyte

text: NINDS Repository

text: half-latino;half non latino

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND25358 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 28 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 21;120 pounds;family history of asthma;hypertension;monozygotic twin sister is GM14502;monozygotic using 28 STRs

text: proband

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14501 female unaffected Monozygotic twin pairs sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 74 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND25361 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 20;114 pounds;family history of asthma;hypertension;and hepatitis C;monozygotic twin sister is GM1450;monozygotic using 28 STRs

characteristic: description

text: twin sister

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14502 female unaffected Monozygotic twin pairs sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND25362 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 24;150 pounds;monozygotic twin sister is GM14504;monozygotic using 20 STRs

text: proband

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14503 female unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

characteristic: race

text: Female

text: ND25363 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 20 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 24;141 pounds;monozygotic twin sister is GM14503;monozygotic using 20 STRs

text: twin sister

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14504 female unaffected Monozygotic twin pairs sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: ND25364 male 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: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Short stature;no endocrine abnormalities;normal growth hormone function

characteristic: description

text: 45;X;dic(Y;13)(Yqter>Yp11.2::13p11.2> 13qter).ish dic(Y;13)(DYZ3+;D13Z1/ D21Z1+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Dicentric chromosome

text: GM14505 male unaffected Dicentric chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND25365 female affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 20;109 pounds;family history of ulcers and hypertension;twin sister is GM14507;monozygotic by microsatellite analysis

text: proband

text: Homo sapiens

text: Caucasian

text: Female

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

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14506 female unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 18 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND25366 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 26 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 22;119 pounds;family history of ulcers and hypertension;twin sister of GM14506;monozygotic by microsatellite analysis

text: twin sister

text: Homo sapiens

text: Caucasian

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14507 female unaffected Monozygotic twin pairs sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25367 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 22;132 pounds;family history of diabetes;monozygotic twin sister is GM14509;monozygotic using 28 STRs

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14508 female unaffected Monozygotic twin pairs sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND25377 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 22;136 pounds;family history of diabetes;asthma;monozygotic twin sister is GM14508;monozygotic using 28 STRs

text: twin sister

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14509 female unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 38 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND25378 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Glycogen storage disease ii

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;adult onset;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1195-8 of the GAA gene (c.1195-8G>A);the second allele has a 1 bp insertion at nucleotide 251 (c.251insC)

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease ii

text: GM14510 female affected Glycogen storage disease ii sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25383 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 21;151 pounds;dizygotic twin sister is GM14512;dizygotic using 20 STRs

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Black

text: Female

characteristic: sex

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14511 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 49 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25384 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 18 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 20;149 pounds;dizygotic twin sister is GM14511;dizygotic using 20 STRs

text: twin sister

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14512 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 21 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND25385 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 10 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy taken from midcalf;deceased;1st cousin once removed of GM00366

characteristic: description

characteristic: family id

text: cousin

text: 46;XY;rec(3)(qter>p25:: q21>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Inverted chromosome

text: GM14513 male unaffected Inverted chromosome sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND25386 male affected Epilepsy sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 10 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Lung biopsy;deceased;1st cousin once removed of GM00366

text: cousin

text: 46;XY;rec(3)(qter>p25:: q21>qter)

text: Homo sapiens

text: Caucasian

text: Male

text: Inverted chromosome

text: GM14514 male unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25391 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 22;120 pounds;family history of diabetes;dyzygotic twin sister is GM14516;dyzygotic using 28 STRs

text: twin sister

text: Homo sapiens

text: Caucasian

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14517 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND25392 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 32;180 pounds;monozygotic twin sister is GM14521;monozygotic using 20 STRs

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

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

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14520 female unaffected Monozygotic twin pairs sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy

text: ND25393 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 30;170 pounds;monozygotic twin sister is GM14520;monozygotic using 20 STRs

text: twin sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14521 female unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND25409 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Glycogen storage disease ii

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;juvenile onset;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 (IVS1-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon;exon 2;the second allele has a 2 bp deletion at nucleotide 2815 (c.2815_2816delGT) resulting in a frameshift and premature stop Val939fsX78;also identified in this subject is a third mutation of unknown disease effect: a G>A transition at nucleotide 448 (c.448G>A) resulting in the substitution of threonine for alanine at codon 150 Ala150Thr (A150T)

text: proband

text: GAA

characteristic: gene

characteristic: mutation

text: T>G

text: Homo sapiens

text: Asian

text: Female

text: Glycogen storage disease ii

text: GM14526 female affected Glycogen storage disease ii sample


text: Coriell

text: live

text: Generic

text: 66 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND25410 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father of affected child (GM14526);donor subject is heterozygous for a 2 bp deletion at nucleotide 2815 of the GAA gene (c.2815_2816delGT) resulting in a frameshift and premature stop Val939fsX78

characteristic: description

text: father

text: GAA

text: Homo sapiens

text: Asian

characteristic: race

text: Male

text: Glycogen storage disease ii

text: GM14528 male unaffected Glycogen storage disease ii sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sibling

text: Homo sapiens

characteristic: organism

text: African American

text: Male

characteristic: sex

text: Epilepsy

text: ND25411 male affected Epilepsy sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 23;158 pounds;dizygotic twin sister is GM14530;dizygotic using 20 STRs

text: proband

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14529 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 38 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25415 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 18 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 22;147 pounds;dizygotic twin sister is GM14529;dizygotic using 20 STRs

text: twin sister

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14530 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND25416 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 27;145 pounds;monozygotic twin sister is GM14533;monozygotic using 20 STRs

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14532 female unaffected Monozygotic twin pairs sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 86 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND25417 male affected Progressive supranuclear palsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 25;126 pounds;monozygotic twin sister is GM14532;monozygotic using 20 STRs

text: twin sister

text: Homo sapiens

text: Black

text: Female

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

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14533 female unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 39 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND25425 female affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 26 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 18;100 pounds;monozygotic twin sister is GM14536;monozygotic using 20 STRs

text: proband

text: Homo sapiens

text: Black

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14535 female unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: 25% hispanic/latino

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND25426 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 19;103 pounds;monozygotic twin sister is GM14535;monozygotic using 20 STRs

characteristic: description

text: twin sister

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14536 female unaffected Monozygotic twin pairs sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25427 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

characteristic: NCBI submission package

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 23;169 pounds;dyzygotic twin brother is GM14538;dyzygotic using 28 STRs

text: proband

text: Homo sapiens

text: Black

text: Male

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14537 male unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 9 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND25428 female affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 20;138 pounds;dyzygotic twin brother is GM14537;dyzygotic using 28 STRs

characteristic: family id

text: twin brother

text: Homo sapiens

text: Black

text: Male

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14538 male unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND25442 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 22;125 pounds;twin sister is GM14543

characteristic: description

text: twin sister

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14544 female unaffected Human variation panel - african american panel of 100 (version 2) sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Female

text: ND25443 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 25;189 pounds;dyzygotic twin brother is GM14546;dyzygotic using 28 STRs

text: twin brother

text: Homo sapiens

text: Caucasian

text: Male

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14547 male unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Male

characteristic: tag

text: ND25456 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 22;125 pounds;dizygotic twin sister is GM14549;dizygotic using 20 STRs

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14548 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: Asian

text: Female

text: ND25463 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 26;143 pounds;dizygotic twin sister is GM14548;dizygotic using 20 STRs

characteristic: family id

text: twin sister

text: Homo sapiens

text: Caucasian

text: Female

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: GM14549 female unaffected Apparently healthy individuals with a body mass index (bmi) within normal range sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 24 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND25464 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Glycogen storage disease ii

text: 7 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;probable classic infantile onset;no specific information provided as to enzyme activity or cardiac status and therefore could be an atypical infantile onset;donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 525 in exon 2 of the GAA gene (c.525delT) resulting in a frameshift and premature termination of the protein Glu176fsX45);the second allele has a C>A transversion at nucleotide 2210 (c.2210C>A) resulting in the substitution of asparagine for threonine at codon 737 Thr737Asn (T737N)

characteristic: description

text: proband

text: GAA

characteristic: gene

characteristic: mutation

text: 1-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Glycogen storage disease ii

text: GM14550 female affected Glycogen storage disease ii sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Other

text: Male

text: ND25466 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother of an affected child (GM14550);donor subject is heterozygous for a C>A transversion at nucleotide 2210 of the GAA gene (c.2210C>A) resulting in the substitution of asparagine for threonine at codon 737 Thr737Asn (T737N)

text: mother

text: GAA

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease ii

characteristic: tag

text: GM14551 female unaffected Glycogen storage disease ii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 39 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Other

text: Female

text: ND25467 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father of an affected child (GM14550);donor subject is heterozygous for a 1 bp deletion at nucleotide 525 in exon 2 of the GAA gene (c.525delT) resulting in a frameshift and premature termination of the protein Glu176fsX45)

characteristic: family id

text: father

text: GAA

text: 1-BP DEL

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Glycogen storage disease ii

text: GM14552 male unaffected Glycogen storage disease ii sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 6 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

text: Female

characteristic: sex

text: Tourette syndrome

text: ND25468 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 1 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deceased at age 25 days;cardiomegaly;hepatosplenomegaly;nephromegaly;hypertension at birth;extensive mineralization of walls of elastic arteries;polyhydramnios & fetal macrosomia;sev atherosclerosis;congestive heart failure;donor subject is a compound heterozygote: one allele carries a T>G transversion at nucleotide 936 (936T>G) in exon 9 of the ENPP1 gene;which results in a nonsense mutation at codon 312 TYR312TER (Y312X);the second allele carries an A>G transition at nucleotide 2375 (2375A>G) in exon 23;which results in a missense mutation at codon 792 ASN792SER (N792S) .

characteristic: description

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Ectonucleotide pyrophosphatase/phosphodiesterase 1

text: GM14553 female affected Arterial calcification generalized of infancy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: ash j

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND25473 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 28 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother of an affected child;GM14553 (Fibroblast);donor subject carries an A>G transition at nucleotide 2375 (2375A>G) in exon 23 of the ENPP1 gene;which results in a missense mutation at codon 792 ASN792SER (N792S) .

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM14554 female unaffected Arterial calcification generalized of infancy sample


text: Coriell

text: live

text: Generic

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: ash j

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND25474 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father of an affected child;GM14553 (Fibroblast);donor subject carries a T>G transversion at nucleotide 936 (936T>G) in exon 9 of the ENPP1 gene;which results in a nonsense mutation at codon 312 TYR312TER (Y312X) .

characteristic: description

text: father

characteristic: gene

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: GM14556 male unaffected Arterial calcification generalized of infancy sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 27 YR

text: B-Lymphocyte

text: NINDS Repository

text: ash j

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25475 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 21;156 pounds;monozygotic twin brother is GM14569;monozygotic using 28 STRs

text: proband

text: Homo sapiens

text: Caucasian

text: Male

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

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14568 male unaffected Monozygotic twin pairs sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Progressive supranuclear palsy

text: 75 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

characteristic: tag

text: ND25476 male affected Progressive supranuclear palsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 22;160 pounds;monozygotic twin brother is GM14568;monozygotic using 28 STRs

characteristic: family id

text: twin brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14569 male unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: ND25477 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother of an affected child (GM14573);donor subject is heterozygous for a 3 bp deletion at nucleotide 1606 in exon 11 of the GAA gene (c.1606_1608del) resulting in a deletion at codon 536 (Asn536del)

characteristic: description

text: mother

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease ii

text: GM14574 female unaffected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND25482 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Trichothiodystrophy

text: 17 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mental retardation;brittle hair and nails;ichthyotic skin;photosensitivity;affected brother is GM14577

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Trichothiodystrophy

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

text: GM14576 male affected Trichothiodystrophy sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND25483 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Trichothiodystrophy

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mental retardation;brittle hair and nails;ichthyotic skin;photosensitivity;affected brother is GM14576

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Trichothiodystrophy

text: GM14577 male affected Trichothiodystrophy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: More than one race

text: Male

text: ND25484 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father of 2 affected children

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Trichothiodystrophy

text: GM14579 male unaffected Trichothiodystrophy sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND25485 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 18 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 24;160 pounds;monozygotic twin brother is GM14582;monozygotic using 28 STRs

text: proband

text: Homo sapiens

text: Caucasian

text: Male

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

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14581 male unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND25486 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 22;145 pounds;monozygotic twin brother is GM14581;monozygotic using 28 STRs

text: twin brother

text: Homo sapiens

text: Caucasian

text: Male

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14582 male unaffected Monozygotic twin pairs sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

text: American Indian

text: Male

text: Tourette syndrome

text: ND25487 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 17;129 pounds;monozygotic twin brother is GM14584;monozygotic using 28 STRs

text: proband

text: Homo sapiens

text: Black

text: Male

characteristic: tag

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14583 male unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND25488 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 19;129 pounds;monozygotic twin brother is GM14583;monozygotic using 28 STRs

characteristic: description

text: twin brother

text: Homo sapiens

text: Black

text: Male

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14584 male unaffected Monozygotic twin pairs sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: twin brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND25489 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Cockayne syndrome type unspecified

text: 17 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Sun-sensitive skin rash;cerebellar ataxia;tremor;global cerebral atrophy;slowly progressive neurological deterioration;fibroblasts show above normal UV radiation sensitivity;but normal DNA repair;consanguinous parents;cousin with hearing loss

text: PERUVIAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Cockayne syndrome type unspecified

text: GM14589 female affected Cockayne syndrome type unspecified sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25490 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother of an affected child;GM14589

text: PERUVIAN

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Cockayne syndrome type unspecified

characteristic: tag

text: GM14590 female unaffected Cockayne syndrome type unspecified sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND25491 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: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Body mass index = 26;170 pounds;monozygotic twin brother is GM14593;monozygotic using 28 STRs

characteristic: description

text: HISPANIC

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14592 male unaffected Monozygotic twin pairs sample


text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND25492 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Body mass index = 26;164 pounds;monozygotic twin brother is GM14592;monozygotic using 28 STRs

text: HISPANIC

characteristic: ethnicity

characteristic: family id

text: twin brother

text: Homo sapiens

text: Caucasian

text: Male

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

text: Non-obese controls

text: Apparently healthy non-fetal tissue

text: Monozygotic twin pairs

text: GM14593 male unaffected Monozygotic twin pairs sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25493 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Glycogen storage disease ii

text: 7 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;probable classic infantile onset;no specific information provided as to enzyme activity or cardiac status and therefore could be an atypical infantile onset;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 670 of the GAA gene (c.670C>T) resulting in the substitution of tryptophan for arginine at codon 224 Arg224Trp (R224W);the second allele has a deletion extending from an 8 nucleotide long AGGGGCCG sequence starting from nucleotide 102 downstream of exon 17 to exactly the same sequence starting at nucleotide 32 downstream of exon 18 (c.2481+102_2646+31del;p.Gly828_Asn882del)

text: proband

text: GAA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease ii

characteristic: tag

text: GM14603 male affected Glycogen storage disease ii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Epilepsy

text: ND25497 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 33 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mother of an affected child (GM14603);donor subject is heterozygous for a C>T transition at nucleotide 670 of the GAA gene (c.670C>T) resulting in the substitution of tryptophan for arginine at codon 224 Arg224Trp (R224W)

characteristic: description

text: mother

text: GAA

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease ii

text: GM14604 female unaffected Glycogen storage disease ii sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND25498 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Puerto Rican;oculocutaneous albinism;possible early pulmonary fibrosis;hemorrhagic diathesis;homozygous 16 bp duplication (codons 491_496);see GM14609 Fibroblast

text: PUERTO RICAN

characteristic: ethnicity

text: proband

characteristic: gene

text: 16-BP DUP

text: Homo sapiens

text: Caucasian

text: Female

text: HPS

text: Hermansky-pudlak syndrome

text: Hps1 gene

text: GM14606 female affected HPS1 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND25499 male affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 26 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Puerto Rican;oculocutaneous albinism;possible early pulmonary fibrosis;hemorrhagic diathesis;homozygous 16 bp duplication within exon 15 of the HPS gene (codons 491_496);see GM14606 Lymph

text: PUERTO RICAN

text: proband

text: 16-BP DUP

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: HPS

text: Hermansky-pudlak syndrome

text: Hps1 gene

text: GM14609 female affected HPS1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 14 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy

text: ND25500 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: East Indian

characteristic: description

text: EAST INDIAN

text: Homo sapiens

characteristic: organism

text: East Indian

text: Female

text: Apparently healthy non-fetal tissue

text: GM14611 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: JEWISH

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND25501 male affected Tourette syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Hemochromatosis

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;serum ferritin 1059 ng/ml;serum iron 193 mcg/dl;transferrin saturation 97%;liver biopsy revealed no fibrosis;4+ iron stain;homozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene

text: HFE

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Hemochromatosis

characteristic: tag

text: HFE

text: GM14620 male affected Hemochromatosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Italian

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND25503 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Hemochromatosis

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Asymptomatic;diagnosed at age 21;serum ferritin 231 ng/ml;serum iron 198 mcg/ dl;transferrin saturation 81%;liver biopsy revealed no fibrosis;1+ iron stain;homozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene

characteristic: description

text: HFE

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Hemochromatosis

text: HFE

text: GM14621 male affected Hemochromatosis sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Irish/Mennonite

characteristic: ethnicity

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND25504 female unaffected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Breast cancer 2, early-onset

text: 39 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Infiltrating adenocarcinoma of right breast and infiltrating ductal carcinoma of left breast;family history: father and uncle with prostate cancer;aunt with breast cancer;aunt with ovarian cancer;and uncle with lung cancer;frameshift mutation in BRCA2 gene is 6503delTT in exon 11;leading to a truncation at codon 2099 (R2092fsX2099)

characteristic: gene

characteristic: mutation

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

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

characteristic: tag

text: Breast cancer 2, early-onset

text: GM14622 female affected Breast cancer 2, early-onset sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 16 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND25505 male affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Breast cancer 2, early-onset

text: 70 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Infiltrating ductal carcinoma of right breast;scirrhous adenocarcinoma of left breast;family history: sister with bilateral breast cancer;sister with leukemia and colon cancer;sister with breast and stomach cancer;a missense mutation (353A>G) in the BRCA2 gene is in exon 3 results in a substitution in codon 42 (Y42C;Tyr42Cys)

characteristic: description

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Breast cancer 2, early-onset

text: GM14623 female affected Breast cancer 2, early-onset sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: ash j

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND25507 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title