text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Ellis-van creveld syndrome

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;dwarfism;polydactyly;dystrophic nails;double tooth;pigeon breast;bilateral genu valgum;heart murmur

text: AMISH

characteristic: ethnicity

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: EVC

text: Ellis-van creveld syndrome

text: GM11209 male affected Ellis-van creveld syndrome sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 44 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: wife

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND21421 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Ellis-van creveld syndrome

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;dwarfism;polydactyly;bilateral genu valgum;daughter of GM11206

characteristic: description

text: AMISH

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: EVC

text: Ellis-van creveld syndrome

text: GM11210 female affected Ellis-van creveld syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND21426 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Ellis-van creveld syndrome

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;dwarfism;polydactyly;cleavage in upper & lower gums;thin hair;affected sister

text: AMISH

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: EVC

text: Ellis-van creveld syndrome

text: GM11211 female affected Ellis-van creveld syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 62 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND21427 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Ellis-van creveld syndrome

text: 32 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Amish;dwarfism;polydactyly;prominent systolic murmur;affected paternal aunt

text: AMISH

characteristic: family id

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: EVC

text: Ellis-van creveld syndrome

text: GM11212 male affected Ellis-van creveld syndrome sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease

characteristic: tag

text: ND21431 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Chromosome deletion

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;hypotonia;mildly dysmorphic features;both parents have normal karyotypes

characteristic: description

text: 46;XX;del(2)(pter->q32.1::q33->qter).arr 2q32.1q33.2(186818448-204311174)x1;46;XX;del(2)(pter>q32.1::q33>qter)

characteristic: karyotype

text: Homo sapiens

text: Asiatic Indian

text: Female

text: Copy number variation (cnv) reference panel

text: Chromosome deletion

text: GM11213 female affected Chromosome deletion sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND21447 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: Glycogen storage disease i

text: 23 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Liver biopsy of affected sibling showed deficiency of glucose-6-phosphatase;hyperuricemia under control;cornstarch therapy to counteract hypoglycemia;donor subject is homozygous for a C>T transition at nucleotide 1118 in exon 5 of the G6PC gene 1118C>T resulting in a substitution of a termination signal for glutamine at codon 347 Gln347Ter (Q347X) .

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease i

text: GM11215 male affected Glycogen storage disease i sample


text: Coriell

text: live

text: Generic

text: 32 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Indian or Pakistani;or South Asian

characteristic: ethnicity

characteristic: family id

text: parent

text: Homo sapiens

characteristic: organism

text: Asian

characteristic: race

text: Male

text: ND21448 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Aplastic anemia;easy bruisability

characteristic: description

text: 48;XXXX;48;XXXX 49 /49;XXXXX 1

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM11226 female unaffected Aneuploid chromosome number - non-trisomic sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND21449 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 8 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: IAT1803;onset of ataxia at age 4;ocular telangiectasias;elevated serum AFP of 36 ng/ml (normal <10 ng/ml);46;XY;inv(7)(p14;q35) in PBL;no detectable IgA

text: ITALIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM11235 male affected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND21450 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: AT

text: 31 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Mormon;onset of ataxia at age 5;AFP (320);46;XX;t(7;14) with increased breakage;expired at age 32 with bronchopneumonia;radiosensitivity 3% as determined by colony survival assay;donor subject is homozygous for an A>G change in intron 32 of the ATM gene (IVS32-12;A>G) resulting in a frameshift and truncation Val1538Ile (V1538I)

characteristic: description

text: proband

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM11238 female affected AT sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Asian

text: Female

text: Epilepsy

text: ND21451 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 20 FW

characteristic: age

characteristic: cell line

text: Amniotic fluid-derived cell line

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 46;XX;t(1;16)(1pter>1q24::16q21>16qter;16pter>16q21::1q24>1qter);balanced;de novo translocation

text: 46;XX;t(1:16)(1pter>1q24::16q21>16qter;16pter>16q21::1q24>1qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Translocated chromosome

text: GM11239 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sibling

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Male

text: Epilepsy

text: ND21454 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 18 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Product of conception fibroblast culture;analysis with probe YNZ22 detected a deletion at locus D17S5 (17p13.3)

characteristic: description

text: 46;XY;t(7;17)(7pter>7p10::17p13.3> 17pter;17qter>17p13.3::7q10>7qter)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

characteristic: tag

text: GM11251 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: More than one race

text: Male

text: Epilepsy

text: ND21462 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Ataxia-telangiectasia

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;AT2LA;complementation group A;onset of ataxia at age 4;IgA deficiency;has t(7;14) chromosomal rearrangement and increased chromosome breakage;abnormal post-ionizing radiation DNA repair;2 similarly affected sibs;including GM11260.

text: IRISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM11253 male affected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 43 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: ND21464 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: AT

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: AT6LA;Mormon;onset of ataxia at age 2.5;telangiectasia noted at age 8;elevated serum AFP;negative family history for AT or cancer;IDDM in family;complementation group A;donor subject is a compound heterozygote: allele 1 is a 372bp deletion at nucleotide 2467 resulting in skipping of exon(s) 19 and (20?) leading to a 124 aa deletion at codon 823;allele 2 is a substitution in IVS62 (IVS62+1G>A);a splice donor mutation resulting in a deletion in the cDNA 8672del115 and a subsequent frameshift and termination (G2891X)

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM11254 male affected AT sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: tag

text: ND21465 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: AT

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT14LA;diagnosed at age 6;negative family history;severe spasticity of hands and feet;telangiectasias over eyes and ears;elevated serum AFP;46;XX;inv (14)(q12;q32) with telomeric fusions in PBL;donor subject is a compound heterozygote: one mutation is a 1 bp insertion at nucleotide 6015 resulting in a frameshift and truncation at codon 2005;a second mutation is 8565TG>AA

characteristic: description

text: ATM

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM11255 female affected AT sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 12 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: Tourette syndrome

text: ND21466 male affected Tourette syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: AT

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Onset of ataxia at age 1;46;XX;t(7;14) in PBL;donor subject carries an A>C substitution in intron 38 (IVS38-2A>C) resulting in a deletion of 61bp at nucleotide 5497 (5497del61);a cryptic splice acceptor;a frameshift;and truncation ( Val1832Ile (V1832I)

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM11258 female affected AT sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: ND21467 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: Ataxia-telangiectasia

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;AT1LA;complementation group A;onset of ataxia at age 1;radiosensitivity is 11% as determined by colony survival assay;has t(7;14) chromosomal rearrangement and increased chromosome breakage;2 similarly affected sibs;including GM11253.

text: IRISH

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM11260 male affected Ataxia-telangiectasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

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: ND21468 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: AT3LA;onset of ataxia at age 3;drooling;ocular apraxia;extrapyramidal signs;telangiectasia-minimal cafe au lait spots;2 affected sibs;elevated serum AFP;increased radiosensitivity;complementation group C;previous mutations listed for GM11261 and GM13327 have not been confirmed (personal communication)

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM11261 female affected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21469 male unaffected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: AT

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset of ataxia at age 15 mo;AFP (122);donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 5515 in exon 39 of the ATM gene (5515C>T) resulting in a substitution of a termination codon for glutamine at codon 1839 Gln1839Ter (Q1839X);the second allele has a 1 bp insertion at nucleotide 5712 in exon 40 (5712insA) resulting in a frameshift at codon 1905 and a truncation (S1905fsX)

text: ATM

characteristic: gene

text: 5712 insA

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM11264 male affected AT sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND21470 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: AT

text: 6 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT31LA;onset of ataxia at age 3;AFP (379);few infections;46;XX;t(7;14);donor subject is a compound heterozygote: one allele carries a 207bp deletion at nucleotide 3078 which results in a skipping of exons 23 and 24;the second allele carries a G>T substitution at nucleotide 5971 resulting in the skipping of exon 42 and a truncation at codon 1991 Glu1991ter (E1991X);an additional mutation is a 9bp deletion at nucleotide 7636 (7636del9) which results in a deletion of three amino acids beginning at codon 2547.

text: ENGLISH

characteristic: ethnicity

text: ATM

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM11265 female affected AT sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21471 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: AT

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: AT34LA;onset of ataxia at age 7;AFP (126) & IgA (0);vitiligo;donor subject carries a G>C substitution in intron 64 (IVS64-1G>C) resulting in a deletion of 13bp at nucleotide 8988 (8988del13);a cryptic splice acceptor;a frameshift;and truncation ( Ser2996Ter (S2996X)

characteristic: description

text: HISPANIC

text: ATM

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM11266 male affected AT sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: ND21472 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Rett syndrome

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;classical symptoms;normal lysosomal enzymes;46;XX in PBL.

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: RTT

characteristic: tag

text: Rett syndrome

text: GM11269 female affected Rett syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21473 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: RTT

text: 8 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;classical symptoms;normal lysosomal enzymes;46;XX in PBL;donor carries a missense mutation;916C>T Arg306Cys (R306C);in the gene encoding methyl-CpG binding protein 2 (MECP2).

text: proband

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM11270 female affected RTT sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 9 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: ND21474 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Rett syndrome

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Caucasian/Hispanic;classical symptoms;normal lysosomal enzymes;46;XX in PBL.

characteristic: description

text: Homo sapiens

characteristic: organism

text: Other

text: Female

characteristic: sex

text: RTT

text: Rett syndrome

text: GM11271 female affected Rett syndrome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 3 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

characteristic: race

text: Female

text: Epilepsy

characteristic: tag

text: ND21475 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: RTT

text: 3 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;classical symptoms;normal lysosomal enzymes;46;XX in PBL;donor subject carries a frameshift mutation;1155del32;in the gene encoding methyl-CpG binding protein 2 (MECP2).

text: JEWISH

characteristic: ethnicity

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM11272 female affected RTT sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: parent

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: ND21476 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: RTT

text: 11 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;classical symptoms;normal lysosomal enzymes;46;XX in PBL;donor subject carries a missense mutation;316C>T;in the gene encoding methyl-CpG binding protein 2 (MECP2).

characteristic: description

text: JEWISH

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: RTT

text: Methyl-cpg-binding protein 2

text: Rett syndrome

text: GM11273 female affected RTT sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Hispanic/Latino

characteristic: race

text: Female

characteristic: sex

text: ND21477 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 model

characteristic: NCBI submission package

text: CF

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: GLY551ASP (G551D)/F508 PHE508DEL : Gly>Asp at amino acid 551 (G>A at nucleotide 1784 in exon 11)/deletion of Phe at amino acid 508 in exon 10

text: CFTR

text: Homo sapiens

text: Caucasian

text: Female

text: CF

characteristic: tag

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM11274 female affected CF sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21484 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: CF

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 3659 del C/F508 PHE508DEL;frameshift mutation deletion of C at nucleotide 3659 in exon 19/deletion of Phe at amino acid 508 in exon 10;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T

characteristic: description

text: CFTR

characteristic: gene

text: 1-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

text: Human gene mutation panel - cystic fibrosis (version 2)

text: CF

text: Cystic fibrosis

text: CFTR

text: GM11275 male affected CF sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND21485 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Heterozygote;2 affected children;I507 ILE507DEL deletion mutation of Ile at amino acid 506/507 in exon 10;46;XY;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T

text: parent

text: CFTR

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: CF

text: Cystic fibrosis

text: CFTR

text: GM11277 male unaffected CF sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND21486 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: CF

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Q493X GLN493TER /F508 PHE508DEL;Gln>stop at amino acid 493 (C>T at nucleotide 1609 in exon 10)/deletion of Phe at amino acid 508 in exon 10

characteristic: description

text: CFTR

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM11278 female affected CF sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND21487 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: CF

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 129G>C/F508 PHE508DEL;G>C at nucleotide 129 in exon 1 (no amino acid change)/deletion of Phe at amino acid 508 in exon 10

text: CFTR

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: CF

text: Cystic fibrosis

text: CFTR

text: GM11279 male affected CF sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 8 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND21488 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: CF

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Donor subject is a compound heterozygote: one allele of the CFTR gene carries a G-to-T substitution at 711+1 in intron 5 (711+1 G>T);a second allele of the CFTR gene carries a G-to-T substitution at 621+1 in intron 4 (621+1G>T);both mutations result in mRNA splicing defects;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T

characteristic: description

text: CFTR

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM11280 female affected CF sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: ND21489 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: CF

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 621+1 G>T/F508 PHE508DEL;splice mutation G>T at nucleotide 621+1 in intron 4/deletion of Phe at amino acid 508 in exon 10;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 9T/9T

text: CFTR

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM11281 male affected CF sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: More than one race

text: Male

characteristic: sex

text: ND21490 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: CF

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: G85E Gly85Glu /621+1 G>T;Gly>Glu at amino acid 85 (G>A at nucleotide 386 in exon 3)/splice mutation G>T at nucleotide 621+1 in intron 4;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T

characteristic: description

text: CFTR

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: CF

text: Cystic fibrosis

text: CFTR

text: GM11282 female affected CF sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: More than one race

text: Female

text: ND21491 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: CF

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: ALA455GLU (A455E)/F508 PHE508DEL;Ala>Glu at amino acid 455 (C>A at nucleotide 1496 in exon 9)/deletion of Phe at amino acid 508 in exon 10;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 9T/9T

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM11283 male affected CF sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Male

text: Tourette syndrome

text: ND21492 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: CF

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: ARG560THR (R560T)/F508 PHE508DEL;Arg>Thr at amino acid 560 (G>C at nucleotide 1811 in exon 11)/deletion of Phe at amino acid 508 in exon 10;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T

text: CFTR

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Human gene mutation panel - cystic fibrosis (version 2)

text: CF

text: Cystic fibrosis

text: CFTR

text: GM11284 male affected CF sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 17 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND21499 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: CF

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: TYR1092TER (Y1092X)/F508 PHE508DEL;Tyr>stop at amino acid 1092 (C>A at nucleotide 3408 in exon 17a)/deletion of Phe at amino acid 508 in exon 10

characteristic: description

text: CFTR

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM11285 male affected CF sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21500 female affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: CF

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: GLY551ASP (G551D)/F508 PHE508DEL;Gly>Asp at amino acid 551 (G>A at nucleotide 1784 in exon 11)/deletion of Phe at amino acid 508 in exon 10

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM11286 female affected CF sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 77 YR

characteristic: cell line

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: Parkinson disease

text: ND21501 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: CF

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: PRO574HIS (P574H)/F508 PHE508DEL;Pro>His at amino acid 574 (C>A at nucleotide 1853 in exon 12)/deletion of Phe at amino acid 508 in exon 10

text: CFTR

text: Homo sapiens

text: Caucasian

text: Male

text: CF

characteristic: tag

text: Cystic fibrosis

text: CFTR

text: GM11287 male affected CF sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 74 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND21502 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: CF

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: GLY178ARG (G178R)/F508 PHE508DEL;Gly>Arg at amino acid 178 (G>A at nucleotide 664 in exon 5)/deletion of Phe at amino acid 508 in exon 10

characteristic: description

text: CFTR

text: Homo sapiens

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: CFTR

text: GM11288 male affected CF sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 13 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21503 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: CF

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: ALA455GLU (A455E)/621+1 G>T;Ala>Glu at amino acid 455 (C>A at nucleotide 1496 in exon 9)/ splice mutation G>T at nucleotide 621+1 in intron 4;analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 9T/9T

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM11290 female affected CF sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND21504 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Fucosidosis

text: 9 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Puerto Rican;hepatomegaly;psychomotor delays;hearing deficit;short stature;poor dentition;subtle coarsening of facial features;clear skin;abnormal lysosomes;fibroblasts show a deficiency of alpha-L-fucosidase

text: PUERTO RICAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Female

text: Fucosidosis

text: GM11291 female affected Fucosidosis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 41 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21505 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: TYR

text: 17 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Type 1a;absent skin & eye pigment;slightly yellow tinge to hair;nystagmus;strabismus;very low vision;deficient tyrosinase activity;donor subject is a compound heterozygote: one allele has a Thr to Lys change at codon 373 of the TYR gene Thr373Lys (T373K);the other allele has an Asn to Lys change at codon 382 Asn382Lys (N382K)

characteristic: description

text: TYR

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Albinism, oculocutaneous type 1a

text: TYR

text: Tyrosinase

text: GM11292 female affected TYR sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND21506 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: Albinism: type unknown

text: 70 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type unknown;absent pigment of hair on head & axilla;salt & pepper pigmentation of facial;chest;& pubic hair;dark hair on arms & legs;slight pigmentation of arms & legs;none elsewhere;very low vision;nystagmus;strabismus

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Albinism: type unknown

characteristic: tag

text: GM11293 male affected Albinism: type unknown sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 19 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21507 female affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Albinism: type unknown

text: 10 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type unknown;absent pigment of skin & eyes;yellow hair;very low vision;nystagmus;strabismus

text: Homo sapiens

text: Caucasian

text: Female

text: Albinism: type unknown

text: GM11294 female affected Albinism: type unknown sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21508 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: TYR

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type Ia;absent pigment of skin;hair;& eyes;very low vision;nystagmus;strabismus;no family history of OCA;undetectable tyrosinase activity in scalp hairbulbs;donor subject is a compound heterozygote: one allele has a CCT (Pro)>CTT (Leu) change at codon 81 of the TYR gene Pro81Leu (P81L);the other allele has a CGG (Arg)>TGG (Trp) change at codon 217 Arg217Trp (R217W)

characteristic: description

text: SCOTTISH/IRISH

characteristic: ethnicity

text: TYR

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Albinism, oculocutaneous type 1a

text: TYR

text: Tyrosinase

text: GM11296 male affected TYR sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND21509 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: TYR

text: 16 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type Ia;absent pigment of skin;hair;& eyes;very low vision;nystagmus;strabismus;pos fam hx for OCA on both parents sides;no tyrosinase act in scalp hairbulbs;donor subject is a compound heterozygote: one allele has a GAT (Asp)>AAT (Asn) change at codon 365 (in another numbering system this was referred to as codon 383) of the TYR gene Asp365Asn (D365N);the other allele has a frameshift caused by an ACT>ACTT at codon 389

text: GERMAN

text: TYR

text: 1-BP INS

text: T

text: CODON 389

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Albinism, oculocutaneous type 1a

characteristic: tag

text: TYR

text: Tyrosinase

text: GM11297 male affected TYR sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 61 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND21511 male affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 1 DA

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother and father are also affected;small thorax and extremely short limbs noted at birth;large head;large anterior fontanel;short hands with typical severe trident appearance;severe shortening of ribs and long bones;see GM11317 Fibroblast;donor subject is homozygous for a G>A transition at nucleotide 1138 of the FGFR3 gene resulting in the substitution of arginine for glycine at codon 380 Gly380Arg (G380R)

characteristic: description

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Achondroplasia

text: ACH

text: Fibroblast growth factor receptor 3

text: GM11316 male affected FGFR3 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND21512 female unaffected Population/convenience control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 1 DA

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mother and father are also affected;small thorax and extremely short limbs noted at birth;large head;large anterior fontanel;short hands with typical severe trident appearance;severe shortening of ribs and long bones;see GM11316 Lymphoid;donor subject is homozygous for a G>A transition at nucleotide 1138 of the FGFR3 gene resulting in the substitution of arginine for glycine at codon 380 Gly380Arg (G380R)

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Achondroplasia

text: ACH

text: Fibroblast growth factor receptor 3

text: GM11317 male affected FGFR3 sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 79 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND21535 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;1 spontaneous abortion at 11 wks gestation

characteristic: description

text: ITALIAN

characteristic: ethnicity

text: 46;XX;t(1;7)(1qter>1p34.1::7p13> 7pter;7qter>7p13::1p34.1>1pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM11318 female unaffected Translocated chromosome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND21536 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Episodic hypoketotic hypoglycemia beginning in 1st year of life resembling Reye syndrome;PBL show <10% of normal medium -chain Acyl CoA dehydrogenase activity;donor subject is homozygous for a G>C transition at nucleotide 166 in exon 3 of the ACADM (MCAD) gene (c.166G>C) resulting in the substitution of proline for alanine at codon 56 Ala56Pro (A56P)

characteristic: family id

text: proband

text: ACADM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: ACADM

text: Acyl-coa dehydrogenase, medium-chain

text: GM11319 female affected ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 70 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Parkinson disease

text: ND21537 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Medium-chain deficiency of

characteristic: tag

text: ACYL-CoA DEHYDROGENASE

text: GM11320 female unaffected ACYL-CoA DEHYDROGENASE sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND21541 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Fetal akinesia deformation sequence

text: 20 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Previously affected brother died within hours of delivery;flexion deformities at all joints;rocker-bottom feet;loss of anterior horn cells in spinal cord;46;XY in cultured amniotic fluid cells;passage 2 at CCR

text: Homo sapiens

text: Caucasian

text: Male

text: Fetal akinesia deformation sequence

text: FADS

text: GM11328 male affected Fetal akinesia deformation sequence sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Female

text: ND21546 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 6 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Complementation group 8;progressive neurologic disorder;C26/22 very long chain fatty acids higher than normal in fibroblasts and plasma;reduced peroxisomal plasmalogen synthesis enzymes in fibroblasts;elevated phytanic acid and pipecolate in plasma;donor subject is homozygous for a C>T transition at nucleotide 292 of the PEX26 gene (292C>T);resulting in an Arg98-to-Trp substitution Arg98Trp (R98W)

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Peroxisome biogenesis factor 26

text: GM11335 female affected Adrenoleukodystrophy autosomal neonatal form sample


text: Coriell

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: parent

text: Homo sapiens

text: Hispanic/Latino

characteristic: race

text: Male

characteristic: sex

text: ND21547 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 19 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Xyy syndrome

text: GM11337 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 6 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND21548 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 21 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ring chromosomes present in 88% of cells;in 72% the r(21) was double the expected size & in 8% it was not possible to assign to a size class;slow growing culture

characteristic: description

text: 46;XX dic;r(21) 36 /45;XX;-21 10 /46;XX;r(21) 4

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ring chromosome

text: GM11338 female unaffected Ring chromosome sample


text: Coriell

text: live

text: Generic

text: 44 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21550 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: TYR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Compound heterozyg: type 1a/type 1b;wht hair at birth;yellow coloration gradually appeared in adolescence;nystagmus;decr visual acuity;& blue irides;1 allele has a CCT (Pro) to CTT (Leu) substitution at codon 81 in exon 1 of the TYR gene Pro81Leu (P81L)

text: SCOTTISH/ENGLISH/IRISH

characteristic: ethnicity

text: TYR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Albinism, oculocutaneous type 1a

text: TYR

text: Tyrosinase

text: GM11345 female affected TYR sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND21551 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 18 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: t(14;18) positive for 14p12 by NOR staining

characteristic: description

text: 45;XY;der(14)(14qter>14p12::18q11>18qter);-18

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

text: GM11346 male unaffected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 13 YR

characteristic: age

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: Female

text: Tourette syndrome

text: ND21552 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Rhizomelic form;deficient peroxisomal plasmalogen synthesis enzymes & phytanic acid oxidase activity in fibroblasts

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM11347 female affected Rhizomelic chondrodysplasia punctata type 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Iranian

characteristic: ethnicity

text: father

text: Homo sapiens

text: Other

text: Male

characteristic: sex

text: ND21555 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: 1 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Rhizomelic form;deficient peroxisomal plasmalogen synthesis enzymes and phytanic acid oxidase activity in fibroblasts

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM11348 female affected Rhizomelic chondrodysplasia punctata type 1 sample


text: Coriell

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: East Indian;Dutch

text: mother

text: Homo sapiens

characteristic: organism

text: Other

text: Female

text: ND21556 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 5 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: GM11349 female affected Rhizomelic chondrodysplasia punctata type 1 sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 7 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Iranian;E. Indian;Dutch

characteristic: family id

text: proband

text: Homo sapiens

text: Other

text: Female

text: Tourette syndrome

text: ND21557 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GM11351 male affected Rhizomelic chondrodysplasia punctata type 1 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND21561 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line 86-164;Khmer Cambodian collected in California;adult;Yale-Stanford Collection. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (98%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597)

text: CAMBODIAN

characteristic: ethnicity

text: Homo sapiens

text: Asian

text: Female

characteristic: sex

text: Cambodian population

text: GM11373 female unaffected Cambodian population sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND21562 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line 86-192;Khmer Cambodian collected in California;adult;Yale-Stanford Collection

characteristic: description

text: CAMBODIAN

text: Homo sapiens

text: Asian

text: Female

text: Cambodian population

text: GM11376 female unaffected Cambodian population sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 39 YR

characteristic: age

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: ND21563 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Line 86-194;Khmer Cambodian collected in California;adult;Yale-Stanford Collection

text: CAMBODIAN

text: Homo sapiens

text: Asian

characteristic: race

text: Male

text: Cambodian population

text: GM11377 male unaffected Cambodian population sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: ND21565 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 21 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: 46;XX;inv(11)(pter>p15::q21>p15::q21> qter)mat

text: 46;XX;inv(11)(pter>p15::q21> p15::q21>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Inverted chromosome

text: GM11380 female unaffected Inverted chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: ND21571 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 11 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Intermediate MSUD;presented at age 10 mo with ketoacidotic coma;history of irritability;poor feeding;& growth & developmental delay;negligible BCKAD act in fibros;defect in E1 component of BCKAD;norm E2 & E3 component activities

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: GM11381 male affected Maple syrup urine disease (msud) type ia sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 18 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21572 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 82 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected father of a child with XP;group B;and features of Cockayne syndrome (GM02252);donor subject is presumed to be heterozygous for a C>A transversion in the splice acceptor sequence of the last intron of the ERCC3 gene.

text: father

characteristic: gene

text: FS

characteristic: mutation

text: SPLICE ACCEPTOR C>A

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Xeroderma pigmentosum, complementation group b

text: XPB

text: Excision-repair: complementing defective in chinese hamster 3

text: GM11394 male unaffected XPB sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: Irish;German

characteristic: ethnicity

text: wife

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND21576 female unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 29 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MODY;diagnosed at age 26;father & 2 sibs are also affected;son of GM11456;donor subject has a missense polymorphism of the HNF4A (TCF14) gene: a C>T transition at nucleotide 609 in exon 4 (609C>T) resulting in a threonine to isoleucine change at codon 130 Thr130Ile (T130I)

characteristic: description

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: GM11401 male affected Maturity-onset diabetes of the young type i sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 79 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND21580 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: MODY;diagnosed at age 20;father & 2 sibs are also affected;son of GM11456;donor subject has a missense polymorphism of the HNF4A (TCF14) gene: a C>T transition at nucleotide 609 in exon 4 (609C>T) resulting in a threonine to isoleucine change at codon 130 Thr130Ile (T130I)

text: cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM11402 female affected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

text: ND21582 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: 21 FW

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hypertelorism;epicanthal folds;short nose with anteverted tip;micro & retrognathia;bilateral simian crease;both parents have normal karyotypes

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM11403 male unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 33 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy

characteristic: tag

text: ND21583 male affected Epilepsy sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Angelman syndrome

text: 7 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Typical facies;seizures;difficulty walking;jerky movements;non-verbal;and some frontal atrophy with mild ventricular enlargement;46;XY;del(15)(pter>q11::q13> qter);del(15) confirmed by FISH with AS and PWS A and B critical region probes

text: proband

text: 46;XY;del(15)(pter>q11::q13>qter);46;XY;del(15)(pter>q11::q13>qter).ish del(15)(D15Z1+;SNRPN-;PML+)

text: Homo sapiens

text: Caucasian

text: Male

text: AS

text: Angelman syndrome

text: Chromosome deletion

text: GM11404 male affected Angelman syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 4 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND21584 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of GM11404;46;XX in lymphoblast culture

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: AS

text: Angelman syndrome

text: GM11405 female unaffected Angelman syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 14 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Male

characteristic: sex

text: Epilepsy

text: ND21585 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Weaver syndrome

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Height;weight;& head circumference >90th %ile;developmental delay;retarded speech;bilat lacrimal duct obstruction;broad forehead;hypertelorism;micrognathia;bilat genu varum;lrg hands & feet;mild hypotonia;46;XY in PBL

characteristic: description

text: HISPANIC

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Weaver syndrome

characteristic: tag

text: GM11406 male affected Weaver syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

text: ND21586 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Weaver syndrome

text: 29 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Post-natal growth excess;camptodactyly;developmental delay;mild mental retardation;somewhat atypical facial appearance as an adult;more typical in early childhood;46;XX in PBL

text: Homo sapiens

text: Caucasian

text: Female

text: Weaver syndrome

text: GM11407 female affected Weaver syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 21 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: ND21591 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Pregnancy was notable for severe emesis;failure to thrive;developmental delay;height and weight 5 standard deviations below mean;microcephalic;low set;posteriorly rotated ears;2nd and 3rd toes overlap;hypotonia;hypoketonuria

text: Homo sapiens

text: Asian

characteristic: race

text: Male

text: GM11408 male affected ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 7 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Epilepsy

text: ND21601 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: KIT

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;6 aff generations;patches of absent pigmentation on chest;abdomen;& limbs;no anemia;others in kindred have white forelock &/or constipation;heterozygous for a GGG(gly)>AGG(Arg) substitution at codon 664 Gly664Arg (G664R) of c-kit proto-oncogene (KIT)

characteristic: description

text: ASHKENAZI

characteristic: ethnicity

text: KIT

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PBT

text: Piebald trait

text: KIT

text: V-kit hardy-zuckerman 4 feline sarcoma viral oncogene homolog

text: GM11409 male affected KIT sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Sephardic Jewish

text: parent

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND21602 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 43 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father was also affected;myriad of adenomatous colorectal polyps;rectal adenocarcinoma;see GM11477 Fibroblast;donor subject has one allele which has a 1 bp deletion at nucleotide 3149 in exon 15 of the APC gene (3149delC) resulting in the truncation of the APC gene product

text: PUERTO RICAN

characteristic: family id

text: proband

text: APC

text: Homo sapiens

text: Caucasian

text: Male

text: APC

text: Apc gene

text: Adenomatous polyposis of the colon

text: GM11410 male affected Adenomatous polyposis of the colon sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 45 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND21603 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 4 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Amish;onset at age 3 days with respiratory distress;pneumonia;and lymphopenia;remained profoundly lymphopenic during first 6 weeks of life with few mature T or B cells and with 23% mononuclear cells bearing NK markers;at one month of age both IgA and IgM were non-detectable and there was absence of proliferative response of lymphocytes to the mitogens PHA;Con A;or PWM;chondro-osseous dysplasia;ADA activity in erythrocytes was less than 0.2% of normal;ADA activity in lymphoblast culture was less than 0.1% of normal;erythrocyte deoxy ATP was markedly elevated;donor subject is homozygous for a G>A transition at nucleotide 646 in exon 7 of the ADA gene 646G>A resulting in a substitution of arginine for glycine at codon 216 Gly216Arg (G216R);parents are GM11412 and GM11413.

characteristic: description

text: AMISH

characteristic: ethnicity

text: proband

text: ADA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Severe combined immunodeficiency autosomal recessive

text: Adenosine deaminase

text: ADA

text: GM11411 male affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: ND21612 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

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;Amish;ADA activity in lymphoblast culture was approximately 50% of normal;donor subject has one allele which has a G>A transition at nucleotide 646 in exon 7 of the ADA gene 646G>A resulting in a substitution of arginine for glycine at codon 216 Gly216Arg (G216R);severely affected child with ADA deficient severe combined immunodeficiency is GM11411.

text: AMISH

characteristic: family id

text: mother

text: ADA

text: Homo sapiens

text: Caucasian

text: Female

text: Adenosine deaminase

text: ADA

text: GM11412 female unaffected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 36 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND21613 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: AMISH

characteristic: ethnicity

text: father

text: ADA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Adenosine deaminase

text: ADA

text: GM11413 male unaffected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND21614 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Glycogen storage disease i

text: 22 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Hypoglycemia;hepatomegaly;deficient hepatic glucose-6-phosphatase activity;G6Pase (G6PC) genotype is Gln347Ter (Q347X) / Gln347Ter (Q347X)

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease i

text: GM11416 female affected Glycogen storage disease i sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND21615 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mental retardation;medium build;mildly stigmatized;coarse facial features with a pugilistic appearance;bilateral lop ear deformities;mild gynecomastia;radioulnar synostosis;congenital cerebral atrophy;see GM11420 Fibroblast

characteristic: description

text: GUYANAN

characteristic: ethnicity

text: proband

text: 48;XYYY 2 /49;XYYYY 48;49;XYYYY;49;XYYYY.arr Xp22.33(109805-2704240)x4;Xq28(154616633-154887040)x4;Yp11.31q12(2712722-27209311)x4;4q31.22(145040166-145270061)x3;8p23.1(7237778-7825360)x3

characteristic: karyotype

text: Homo sapiens

text: Other

text: Male

characteristic: sex

text: Copy number variation (cnv) reference panel

text: GM11419 male affected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: ND21616 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 23 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mental retardation;medium build;mildly stigmatized;coarse facial features with a pugilistic appearance;bilateral lop ear deformities;mild gynecomastia;radioulnar synostosis;congenital cerebral atrophy;see GM11419 Lymphoid

text: GUYANAN

text: proband

text: Homo sapiens

text: Asiatic Indian

text: Male

text: GM11420 male unaffected Aneuploid chromosome number - non-trisomic sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 10 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21617 male affected Tourette syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Protease inhibitor 1

text: 16 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Portions of liver taken at time of liver biopsy were used to make this fibroblast culture;hepatic insufficiency of perinatal onset;enzyme studies done on donor tissue;Pi type ZZ in serum;both parents are MZ;parents are GM11424 and 11425 Lymphoid;donor subject is homozygous for the Z allele (ZZ);which results from a G>A transition at nucleotide 9989 in exon 5 of the SERPINA1 gene 9989G>A resulting in a substitution of lysine for glutamic acid at codon 342 Glu342Lys (E342K) .

characteristic: description

characteristic: family id

text: proband

text: PI

characteristic: gene

text: GLU342LYS ON M1A

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: PI

text: Protease inhibitor 1

text: GM11423 male affected Protease inhibitor 1 sample


text: Coriell

characteristic: INSDC center name

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

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND21633 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 32 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Pi type ZM in serum;son with Pi type ZZ and hepatic insufficiency is GM11423 Fibroblast;donor subject is MZ;the Z allele results from a G>A transition at nucleotide 9989 in exon 5 of the SERPINA1 gene 9989G>A resulting in a substitution of lysine for glutamic acid at codon 342 Glu342Lys (E342K) .

text: mother

text: PI

text: GLU342LYS ON M1A

text: Homo sapiens

text: Caucasian

text: Female

text: PI

text: Protease inhibitor 1

text: GM11424 female unaffected Protease inhibitor 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 46 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21634 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

characteristic: family id

text: father

text: PI

characteristic: gene

text: GLU342LYS ON M1A

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: PI

text: Protease inhibitor 1

text: GM11425 male unaffected Protease inhibitor 1 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Tourette syndrome

text: ND21635 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 6 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies including cleft palate;microcephaly;dislocated left hip;hypertelorism;left hemifacial microsomia;pulmonic stenosis;& nasolacrimal duct stenosis;mental retardation;see GM10394 Fibroblast

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Duplicated chromosome

text: GM11428 female unaffected Copy number variation (cnv) refernece panel 02 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21636 female 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: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Diabetic glucose tolerance test at age 24;daughter of GM11456;father & 2 sibs are also affected;donor subject has a missense polymorphism of the HNF4A (TCF14) gene: a C>T transition at nucleotide 609 in exon 4 (609C>T) resulting in a threonine to isoleucine change at codon 130 Thr130Ile (T130I)

characteristic: description

characteristic: family id

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: GM11430 female affected Maturity-onset diabetes of the young type i sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Tourette syndrome

text: ND21637 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: MODY;diagnosed at age 22;father of GM11401A;GM11402;GM11429;& GM11430;spouse of GM11457;brother of GM10042;GM10045;GM10057;GM10084;GM10086A;GM10165;& GM10169;donor subject has a missense polymorphism of the HNF4A (TCF14) gene: a C>T transition at nucleotide 609 in exon 4 (609C>T) resulting in a threonine to isoleucine change at codon 130 Thr130Ile (T130I)

text: cousin

text: Homo sapiens

text: Caucasian

text: Male

text: GM11456 male affected Maturity-onset diabetes of the young type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND21638 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Glycogen storage disease i

text: 3 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Type Ia;hepatomegaly;slow growth;absent liver glucose-6-phosphatase activity;occasional episodes of severe hypoglycemia with lactic acidosis;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 326 in exon 2 of the G6PC gene 326C>T resulting in a substitution of cysteine for arginine at codon 83 Arg83Cys (R83C) and a second allele has a C>T transition at nucleotide 1118 in exon 5 of the G6PC gene 1118C>T resulting in a substitution of a termination signal for glutamine at codon 347 Gln347Ter (Q347X) .

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease i

text: GM11468 female affected Glycogen storage disease i sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND21647 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;daughter has absent liver glucose-6-phosphatase activity;donor subject is heterozygous for a C>T transition at nucleotide 326 in exon 2 of the G6PC gene 326C>T resulting in a substitution of cysteine for arginine at codon 83 Arg83Cys (R83C) .

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Glycogen storage disease i

text: GM11470 female unaffected Glycogen storage disease i sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 56 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND21648 male unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 30 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;daughter has absent liver glucose-6-phosphatase activity;donor subject is heterozygous for a C>T transition at nucleotide 1118 in exon 5 of the G6PC gene 1118C>T resulting in a substitution of a termination signal for glutamine at codon 347 Gln347Ter (Q347X) .

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Glycogen storage disease i

characteristic: tag

text: GM11471 male unaffected Glycogen storage disease i sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21653 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: CF

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Positive sweat tests;typical clinical findings;CFTR genotype is GLY1349ASP (G1349D)/ASN1303LYS (N1303K);analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T

text: CFTR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Human gene mutation panel - cystic fibrosis (version 2)

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM11472 male affected CF sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND21654 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

characteristic: NCBI submission model

text: Adenomatous polyposis of the colon

text: 43 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Puerto Rican;myriad of adenomatous colorectal polyps;rectal adenocarcinoma;see GM11410 Lymphoid;donor subject has one allele which has a 1 bp deletion at nucleotide 3149 in exon 15 of the APC gene (3149delC) resulting in the truncation of the APC gene product

characteristic: description

text: PUERTO RICAN

characteristic: ethnicity

text: proband

text: APC

text: Homo sapiens

text: Caucasian

text: Male

text: APC

text: Apc gene

text: Adenomatous polyposis of the colon

text: GM11477 male affected Adenomatous polyposis of the colon sample