characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Homocystinuria

text: GM02690 male unaffected Homocystinuria sample

characteristic: title


status: PUBLIC

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

tag: attribute

text: 65 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

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: ND06405 male affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Ehlers-danlos syndrome type i

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Ehlers-danlos syndrome type i

text: GM02691 female affected Ehlers-danlos syndrome type i sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: PD

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06450

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND06449 male affected PD sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Adenomatous polyposis of the colon

text: 40 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Tubulovillus adenoma;polyps;46;XX;27% of fibroblasts are polyploid;donor subject has a C>T change at nucleotide 643 in exon 5 of the APC gene (643C>T) resulting in the conversion of a glutamine at codon 215 to a stop codon Gln215Ter (Q215X)

text: ENGLISH

characteristic: ethnicity

text: proband

text: APC

characteristic: gene

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Turcot syndrome

text: APC

text: Adenomatous polyposis of the colon

text: GM02694 female 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: 68 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND06449

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND06450 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 12 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Normal fibroblast alkaline phosphatase activity;clinically affected

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: Non-lethal

text: GM02695 female affected Osteogenesis imperfecta: genetics uncertain sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND06458 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 45 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;3 affected children;see GM02705 Lymphoid

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02704 male unaffected Diabetes mellitus sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND06470 male affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;HLA type A1;B8/A2;Bw35;3 affected children;see GM02704 Fibro

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02705 male unaffected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND06471 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 45 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;3 affected children;see GM02707 Lymphoid

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02706 female unaffected Diabetes mellitus sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND06472 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;HLA type A9(24);B18/A2;B7;3 affected children;see GM02706A Fibro

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02707 female unaffected Diabetes mellitus sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: PD

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06475

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from north america

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND06474 male affected PD sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 16 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;3 affected sibs;see GM02709 Lymphoid

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02708 male unaffected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND06474

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND06475 female unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 16 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Non-diabetic;HLA type A2;B7/A2;Bw35;see GM02708 Fibroblast;3 affected sibs

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02709 male unaffected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Other

characteristic: race

text: Male

characteristic: sex

text: ND06492 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: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;HLA type A2;B7/A2;Bw35;see GM02710 Fibroblast;3 affected sibs

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

characteristic: tag

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02711 male unaffected Diabetes mellitus sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND06498 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Diabetes mellitus

text: 17 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Onset at age 14;on Insulin;2 affected & 3 unaffected sibs;see GM02713A Lymphoid

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02712 male affected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND06499 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Diabetes mellitus

text: 17 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 14;on Insulin;HLA type A1;B8/A9;B18;2 affected and 3 unaffected sibs;see GM02712 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02713 male affected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND06502

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND06501 male unaffected Control panel for young onset parkinsons: unaffected individuals sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;HLA type A1;B8/A3;B7;4 affected children;see GM01878 Fibro

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02714 female unaffected Diabetes mellitus sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06501

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Young onset parkinsons panel: caucasian subjects from north america

characteristic: tag

text: PD

text: Parkinson disease

text: ND06502 female affected Young onset parkinsons panel: affected individuals sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Androgen receptor

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Genital skin;46;XY;no measurable dihydrotestosterone binding to fibroblasts;same patient as GM02716 and 02717

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: AR

text: Androgen receptor

text: GM02715 female affected Androgen receptor sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND06514 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Androgen receptor

text: 14 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Epididymus tissue;46;XY;same patient as GM02715 and 02717

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: AR

text: Androgen receptor

text: GM02716 female affected Androgen receptor sample


text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

characteristic: organism

text: Asian

text: Female

text: ND06515 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Androgen receptor

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-genital skin;46;XY;same patient as GM02715 and 02716

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: AR

text: Androgen receptor

text: GM02717 female affected Androgen receptor sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND06523 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;HLA type A1;B8/A9;B18;see GM02869 Fibroblast;3 affected sibs

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02728 female unaffected Diabetes mellitus sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 28 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: African American

text: Female

text: ND06529 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 15 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 47;XY;+der(15)(15pter>15q13::15p11> 15pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM02729 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 14 MO

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: African American

text: Female

text: Epilepsy

text: ND06530 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 4 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Breakpoint is above heterochromatic region;33% of cells are 45;X;ambiguous genitalia

characteristic: description

text: 46;X;del(Y)(pter>q11:) 77 /45;X 33

text: Homo sapiens

text: Caucasian

characteristic: race

text: Chromosome deletion

text: GM02730 unknown unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: aunt

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND06546 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 4 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Classical trisomy 18 syndrome findings

text: Homo sapiens

text: Caucasian

text: Male

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 18

text: GM02732 male unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND06554 male affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Cutis laxa

text: 17 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;classical symptoms

text: Homo sapiens

text: Caucasian

text: Male

text: Cutis laxa

text: GM02739 male affected Cutis laxa sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND06557;unaffected father is ND06862

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND06556 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;HLA type A1;B8/A3;Bw35;see GM02640 Fibroblast;both parents had maturity onset diabetes;2 affected children

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02741 male unaffected Diabetes mellitus sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND06556;unaffected spouse is ND06862.

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND06557 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND06568 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial rupture-status undefined

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial rupture-status undefined

text: ND06571 female affected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND06581 female unaffected Population/convenience control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 65 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND06597

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND06596 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND06596

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND06597 male unaffected Dna control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 22 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND06599

text: proband

text: Homo sapiens

characteristic: organism

text: African American

text: Female

text: Epilepsy

text: ND06598 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Greek;clinically normal

characteristic: description

text: GREEK

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Carbonic anhydrase i

text: GM02742 male unaffected Carbonic anhydrase i sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND06598

text: mother

text: Homo sapiens

text: African American

characteristic: race

text: Female

characteristic: sex

text: ND06599 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: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Greek;clinically normal

text: GREEK

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Carbonic anhydrase i

text: GM02743 female unaffected Carbonic anhydrase i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 7 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND06601

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND06600 male affected Epilepsy sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Carbonic anhydrase i

text: 17 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Presumed homozygous for red cell carbonic anhydrase I deficiency;clinically normal;Greek

text: GREEK

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Carbonic anhydrase i

text: GM02744 female affected Carbonic anhydrase i sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother of ND06600

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND06601 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Carbonic anhydrase i

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: GREEK

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Carbonic anhydrase i

text: GM02745 male affected Carbonic anhydrase i sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

characteristic: tag

text: ND06619 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;deficient ADA activity in lymphoblasts and mononuclear cells;enzyme phenotypes: 6PGD=A;G6PD=B;Peptidases A;C;and D=1;Acid Aglucosidase=1;Neutral A-glucosidase C= 3-2;normal ADA mRNA level;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 727 in exon 7 of the ADA gene 727G>A (alternately described as 632G>A) resulting in a substitution of histidine for arginine at codon 211 Arg211His (R211H) and a second allele has a C>T transition at nucleotide 1081 in exon 11 of the ADA gene 1081C>T resulting in a substitution of valine for alanine at codon 329 Ala329Val (A329V) .

text: ADA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: Severe combined immunodeficiency autosomal recessive

text: Adenosine deaminase

text: ADA

text: GM02756 male affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 49 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND06620 female affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Diabetes mellitus

text: 13 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Onset at age 10;on Insulin;HLA type A2;Bw16/A1;B8;3 affected sibs;see GM01872 Fibroblast;46;XX in lymphoblast culture

characteristic: description

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02762 female affected Diabetes mellitus sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: ND06621 male affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Diabetes mellitus

text: 17 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 13;on Insulin;HLA type A10;Bw16/A1;B8;see GM01873 Fibroblast

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02763 female affected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 57 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND06622 female affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Diabetes mellitus

text: 22 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Onset at age 4;on Insulin;HLA type A2;Bw16/A1;B8;see GM01911 Fibroblast

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02764 male affected Diabetes mellitus sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 85 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND06623 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Diabetes mellitus

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 4;on Insulin;HLA type A10;Bw16/A1;B8;see GM01909 Fibroblast;hypertension;short stature

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02765 male affected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND06630

text: proband

text: Homo sapiens

text: More than one race

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND06629 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: HLA type A2;Bw16/A1;B8;mentally retarded;non-diabetic;see GM01874 Fibroblast;4 affected sibs

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02766 female unaffected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: 31 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND06629

characteristic: family id

text: mother

text: Homo sapiens

text: Pacific Islander

text: Female

text: Ninds repository hispanic control plate- coaims tested

text: ND06630 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: Aneuploid chromosome number - trisomy

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinical features of Down syndrome

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Trisomy 21

text: Aneuploid chromosome number - trisomy

text: GM02767 female affected Aneuploid chromosome number - trisomy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND06632

text: proband

text: Homo sapiens

characteristic: organism

text: African American

text: Female

text: Epilepsy

text: ND06631 female affected Epilepsy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Cutis laxa

text: 4 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Cutis laxa

text: GM02768 female affected Cutis laxa sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected daughter is ND06631

text: mother

text: Homo sapiens

text: African American

text: Female

characteristic: sex

characteristic: tag

text: ND06632 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Fabry disease

text: 18 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Alpha-galactosidase A absent;alpha-galactosidase B normal;Xg(a) antigen negative;positive family history;affected maternal grandfather;classic phenotype;donor subject is hemizygous for a C>T change at nucleotide 658 in exon 5 of the GLA gene (c.658C>T) resulting in a stop codon Arg220Ter (R220X)

characteristic: family id

text: proband

text: GLA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Galactosidase, alpha

text: Fabry disease

text: GLA

text: GM02769 male affected Fabry disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected father of ND04787

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND06633 male affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Normal levels of alpha-gal A and B;Xg(a) antigen negative;son of GM02771

text: maternal cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Fabry disease

text: GM02770 male unaffected Fabry disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: PD

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected great niece is ND06638

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Late onset parkinsons dna panel: affected individuals

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND06637 female affected PD sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 42 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 50% of normal alpha-gal A;normal alphagal B;Xg(a) antigen +/-;two unaffected sons

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Fabry disease

characteristic: tag

text: GM02771 female unaffected Fabry disease sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND06642 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 38 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 50% of normal alpha-gal A;normal alphagal B;Xg(a) antigen +/-;two affected sons;two populations of cells;one with normal alpha-galactosidase A activity and a second with deficient enzyme activity observed using cell sorting

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Fabry disease

text: GM02772 female unaffected Fabry disease sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 57 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: same subject as ND29969

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND06646 female affected Parkinson disease sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 47 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 50% of normal Alpha gal A;normal Alpha gal B;Xg(a) antigen +/-;two affected sons;two populations of cells;one with normal alpha-galactosidase-A activity and a second with deficient enzyme activity observed using cell sorting;donor subject is heterozygous for a C>T change at nucleotide 658 in exon 5 of the GLA gene (c.658C>T) resulting in a stop codon Arg220Ter (R220X);donor is also heterozygous for three SNPs: IVS4-16A>G (rs2071397);IVS6-22C>T (rs2071228) and c.1-10C>T (rs2071225)

text: maternal aunt

text: GLA

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Galactosidase, alpha

text: Fabry disease

text: GLA

text: GM02774 female unaffected Fabry disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND06648 male unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Fabry disease

text: 16 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Alpha-gal A absent;alpha-gal B normal;Xg(a) antigen positive;1st cousin to proband

characteristic: description

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Fabry disease

characteristic: tag

text: GM02775 male affected Fabry disease sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND06657 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Iranian;clinically normal;2 affected children are GM02782 and GM02783

text: IRANIAN

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: AT

text: Ataxia-telangiectasia

text: GM02781 female unaffected Ataxia-telangiectasia sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial rupture-status undefined

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Intracranial rupture-status undefined

text: ND06658 male affected Intracranial rupture-status undefined sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: AT

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: AT20IJE-F;Iranian;similarly affected sib;see GM02531A Fibroblast;donor subject is a compound heterozygote: one mutation is a 19bp deletion at nucleotide 2251 resulting in a frameshift and truncation at codon 750;a second mutation is an 88 bp deletion at nucleotide 5675 resulting in a frameshift and truncation at codon 1892 and a third mutation is an 81 bp deletion at nucleotide 6573 resulting in a 27 amino acid in-frame deletion at codon 2191

text: proband

text: ATM

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: Ataxia-telangiectasia mutated gene

text: ATM

text: GM02782 male affected AT sample


text: Coriell

text: live

text: Generic

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND05284

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: ND06664 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Ataxia-telangiectasia

text: 8 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Iranian;AT21IJE-F;see GM02530 Fibroblast;hypersensitive to the lethal effects of gamma-irradiation

text: IRANIAN

characteristic: ethnicity

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: AT

text: Ataxia-telangiectasia

text: GM02783 male affected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 12 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND06666;unaffected father is ND06667

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND06665 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Mucopolysaccharidosis type vii

text: 3 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: No detectable beta-glucuronidase activity in fibroblasts

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Mucopolysaccharidosis type vii

text: GM02784 female affected Mucopolysaccharidosis type vii sample


text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND06665;unaffected spouse is ND06667

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND06666 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND06665;unaffected spouse is ND06666

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND06667 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;HLA type Aw31;Bw40/A1;--;see GM02617 Fibro;2 affected children

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02785 female unaffected Diabetes mellitus sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Diabetes mellitus

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Onset at age 3;on Insulin;HLA type A1;B8/A10;B18;see GM02638 Fibroblast

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02793 female affected Diabetes mellitus sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM00054 and GM01907 Fibro and GM00638A (SV40 Transformed);normal kinase and deficient transferase activity in fibroblasts;GALT gene has two missense mutations: replacement of valine-44 by methionine Val44Met (V44M) and replacement of methionine-142 by lysine Met142Lys (M142K)

text: proband

text: GALT

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: GALT

text: Galactosemia

text: GM02795 male affected Galactose-1-phosphate uridylyltransferase sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM00052 and 01908 Fibroblast & GM00639 (SV40 Transformed);no detectable transferase activity in RBCs and fibroblasts;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 404 in exon 5 of the GALT gene (c.404C>T) resulting in the substitution of leucine for serine at codon 135 Ser135Leu(S135L);the second allele has a T>C transition at nucleotide 512 in exon 6 (c.512T>C) resulting in the substitution of serine for phenylalanine at codon 171 Phe171Ser(F171S);donor subject also has two silent polymorphisms: c.876G>A Thr292Thr(T292T) and c.945T>C His315His(H315H)

text: proband

text: GALT

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: GALT

text: Galactosemia

text: GM02796 male affected Galactose-1-phosphate uridylyltransferase sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 40 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Amish;mother of an affected child;proband not in Repository

characteristic: description

text: AMISH

characteristic: ethnicity

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: AT

text: Ataxia-telangiectasia

text: GM02797 female unaffected Ataxia-telangiectasia sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 3 WK

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Not Cri du Chat syndrome

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Chromosome deletion

characteristic: tag

text: GM02800 female unaffected Chromosome deletion sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: CF

text: 15 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Biopsy from nasal polyp;pancreatic insufficiency;elevated sweat electrolytes;donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL)

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: GM02801 male affected CF sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 27 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Unaffected;possible heterozygote;normal sweat electrolytes;sister died at age 25 of CF

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: CF

text: Cystic fibrosis

text: GM02803 male unaffected Cystic fibrosis sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Propionic acidemia

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hyperglycinuria

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Propionic acidemia

text: GM02805 male affected Propionic acidemia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 30 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Multiple spontaneous abortions

text: 46;XX;t(3;17)(3qter>3p21::17p13>17pter;17qter>17p13::3p21>3pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM02808 female unaffected Translocated chromosome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Non-diabetic;HLA type A10;Bw16/A1;B8;see GM01876 Fibroblast;4 affected sibs

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02812 male unaffected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

text: 1 WK

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple anomalies;polydactyly;trisomy 13q

text: 46;XX;+13;der(13;15)(13qter>q10::q10>15qter)mat;46;XX;der(13;15)(15qter>15q10::13q10>13qter)mat;+13

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM02813 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 6 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Low serum zinc concentration;clinically affected

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: AEZ

text: GM02814 male affected Acrodermatitis enteropathica, zinc-deficiency type sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 24 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Heterozygote serum zinc concentration;clinically unaffected father of GM02814

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: AEZ

text: GM02815 male unaffected Acrodermatitis enteropathica, zinc-deficiency type sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Mannosidase, alpha, class 2b member 1

text: 6 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;22% of normal alpha-mannosidase activity;donor subject is homozygous for a C>T transition at nucleotide 2248 in exon 18 of the MAN2B1 gene (2248C>T) resulting in the substitution of tryptophan for arginine at codon 750 Arg750Trp (R750W)

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Mannosidosis alpha b, lysosomal

text: Mannosidase, alpha, class 2b member 1

text: GM02817 female affected Mannosidase, alpha, class 2b member 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 7 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM02820 Lymphoid

text: proband

text: 46;XX;der(12)(12pter->12q24::9p13->9pter)mat.arr 9p24.3p13.3(36586-34486909)x3;12q24.32q24.33(125001581-132287718)x1;46;XX;der(12)(12pter>12q24::9p13>9pter)mat

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

characteristic: tag

text: GM02819 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 7 MO

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: See GM02819 Fibroblast

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Translocated chromosome

text: GM02820 female unaffected Copy number variation (cnv) refernece panel 02 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM02822 Lymphoid

characteristic: description

text: mother

text: 46;XX;t(9;12)(9qter>9p13::12q24> 12qter;12pter>12q24::9p13>9pter)

text: Homo sapiens

text: Black

characteristic: race

text: Female

characteristic: sex

text: Translocated chromosome

text: GM02821 female unaffected Translocated chromosome sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: See GM02821 Fibroblast

text: mother

text: 46;XX;t(9;12)(9qter>9p13::12q24>12qter;12pter>12q24::9p13>9pter)

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

text: GM02822 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 4 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;lymphoblastoid cell line contains less than 5% of normal ADA activity and immunoreactive protein;absent IgM and IgA;weak MLC response;absent T cells;no detectable ADA activity in erythrocytes;normal ADA mRNA level but cells contain mRNAs of abnormal size;normal ADA mRNAs and ADA mRNAs missing exon 4 are present in approximately equal abundance;donor subject is a compund heterozygote: one allele has a C>T transition at nucleotide 1081 in exon 11 of the ADA gene 1081C>T resulting in a substitution of valine for alanine at codon 329 Ala329Val(A329V) and a second allele has an A>G transition in the 3-prime splice site of intron 3 of the ADA gene resulting in a deletion of exon 4 from mature RNA;same donor as GM02825 lymphocyte.

text: proband

text: ADA

characteristic: gene

characteristic: mutation

text: A>G

text: Homo sapiens

text: Caucasian

text: Female

text: Severe combined immunodeficiency autosomal recessive

characteristic: tag

text: Adenosine deaminase

text: ADA

text: GM02824 female affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 4 MO

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;lymphoblastoid cell line contains less than 5% of normal ADA activity and immunoreactive protein;absent IgM and IgA;weak MLC response;absent T cells;no detectable ADA activity in erythrocytes;normal ADA mRNA level but cells contain mRNAs of abnormal size;normal ADA mRNAs and ADA mRNAs missing exon 4 are present in approximately equal abundance;donor subject is a compund heterozygote: one allele has a C>T transition at nucleotide 1081 in exon 11 of the ADA gene 1081C>T resulting in a substitution of valine for alanine at codon 329 Ala329Val(A329V) and a second allele has an A>G transition in the 3-prime splice site of intron 3 of the ADA gene resulting in a deletion of exon 4 from mature RNA;same donor as GM02824 fibroblast.

characteristic: family id

text: proband

text: ADA

text: A>G

text: Homo sapiens

text: Caucasian

text: Female

text: Adenosine deaminase

text: ADA

text: GM02825 female affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 51 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Normal sweat electrolytes

characteristic: description

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: CF

text: Cystic fibrosis

text: GM02826 female unaffected Cystic fibrosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: CF

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Expired at age 25;pancreatic insufficiency and diabetes mellitus;elevated sweat chloride;passage 6 at CCR;donor subject was homozygous for the deltaF508 deletion mutation (Phe508DEL)

text: proband

text: CFTR

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: CF

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM02827 female affected CF sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: CF

text: 26 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Advanced pulmonary involvement;pneumothorax;no pancreatic insufficiency;a sib died of CF in early infancy with meconium ileus;passage 4 at CCR;donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (Phe508DEL) and a second allele carries a G-to-T transition at nucleotide 1690 (1690G>T) which converts the Val-520 codon (GTC) to a Phe (TTC);resulting in a missense mutation in exon 10 in the CFTR gene Val520Phe (V520F)

text: CFTR

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: CF

text: Cystic fibrosis

text: CFTR

text: GM02828 female affected CF sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Argininosuccinic aciduria

text: 8 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Argininosuccinase deficiency

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Argininosuccinic aciduria

characteristic: tag

text: GM02830 female affected Argininosuccinic aciduria sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 38 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected mother of GM02830

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Argininosuccinic aciduria

text: GM02831 female unaffected Argininosuccinic aciduria sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 48 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected father of GM02830

characteristic: description

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Argininosuccinic aciduria

text: GM02832 male unaffected Argininosuccinic aciduria sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;61% of cells do not have the insertion (3;1)

text: 46;XY;t(9;17)(9pter>9q12::17p11>17pter;17qter>17p11::9q12>9qter) 61 /46;XY;ins(3;1)(3pter>3q21::1q25>1q44::3q21>3qter);t(9;17) (9pter>9q12::17p11>17pter;17qter>17p11::9q12>9qter) 39

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

text: GM02836 male unaffected Translocated chromosome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Neuraminidase deficiency

text: 31 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 22% of normal sialidase activity;cherry-red spots;myoclonus without dementia;similarly affected brother died at age 33

text: Homo sapiens

text: Caucasian

text: Male

text: Neuraminidase deficiency

text: GM02837 male affected Neuraminidase deficiency sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Cockayne syndrome type unspecified

text: 24 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Profound dwarfing;typical facies;ataxic;premature aging and death;two similarly affected sibs

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Cockayne syndrome type unspecified

text: GM02838 male affected Cockayne syndrome type unspecified sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Hurler-scheie syndrome

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Alpha-L-Iduronidase;similarly affected sister;Hurler/Scheie syndrome

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Hurler-scheie syndrome

characteristic: tag

text: GM02845 male affected Hurler-scheie syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Hurler-scheie syndrome

text: 14 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Alpha-L-Iduronidase;similarly affected sister;Hurler/Scheie syndrome;passage 5 at CCR

text: Homo sapiens

text: Caucasian

text: Female

text: Hurler-scheie syndrome

text: GM02846 female affected Hurler-scheie syndrome sample


text: Coriell

text: live

text: Generic

text: Hurler-scheie syndrome

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Alpha-L-Iduronidase;Hurler/ Scheie syndrome

characteristic: description

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Hurler-scheie syndrome

text: GM02847 female affected Hurler-scheie syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: In lymphocytes;28% of the cells had a r(2)(2p25>2q33) instead of the duplication;mild mental retardation;unusual facies;bilateral single transverse palmar creases;and systolic heart murmur

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Duplicated chromosome

text: GM02848 male unaffected Duplicated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Mucopolysaccharidosis type vi

text: 35 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Deficient Arylsulfatase B

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Mucopolysaccharidosis type vi

text: GM02849 male affected Mucopolysaccharidosis type vi sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Dubowitz syndrome

text: 2 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XY;peculiar facies;short stature;sparse hair;mental retardation;negative family history

text: Homo sapiens

text: American Indian

text: Male

text: Dubowitz syndrome

text: GM02850 male affected Dubowitz syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 12 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Puerto Rican;negative family history;clinically affected;probably recessive dystrophic type

text: PUERTO RICAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: GM02857 male affected Epidermolysis bullosa: dystrophic junctional or simplex types sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Translocated chromosome

text: 3 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: See GM03316 Lymphoid;South American;in lymphoblast line;normal X is late replicating;mental retardation with bizarre dysmorphology syndrome: epicanthus;hypertelorism;and trigonocephaly

text: SOUTH AMERICAN

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM02859 female affected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Family history of recurrent abortions

characteristic: description

text: 46;XY;t(3;16)(3pter>3q13.2::16q13> 16qter;16pter>16q13::3q13.2>3qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

text: GM02860 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;HLA type A2;Bw16/A1;B8;see GM01875 Fibroblast;4 affected sibs

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02866 male unaffected Diabetes mellitus sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Diabetes mellitus

text: 24 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Onset at age 22

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02868 male affected Diabetes mellitus sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 25 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Non-diabetic;3 affected sibs;see GM02728 Lymphoid

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02869 female unaffected Diabetes mellitus sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Eosinophilic fascitis

text: 64 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: May synthesize abnormal collagen or mucopolysaccharide

text: Homo sapiens

text: Caucasian

text: Male

text: Eosinophilic fascitis

characteristic: tag

text: GM02870 male affected Eosinophilic fascitis sample


text: Coriell

text: live

text: Generic

text: Sun sensitive high cancer syndrome

text: 67 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: First skin tumor at age 34;4 of 4 sibs affected as well as 2 nephews;no abnormality of DNA repair or replication in fibroblasts;pedigree shows dominant inheritance

characteristic: description

text: NORTHERN EUROPEAN

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Sun sensitive high cancer syndrome

text: GM02881 male affected Sun sensitive high cancer syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Dyschondrosteosis

text: 47 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type of Leri and Weill

text: FRENCH

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Dyschondrosteosis

text: GM02885 female affected Dyschondrosteosis sample


text: Coriell

text: live

text: Generic

text: Niemann-pick disease: type unspecified

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 47% of normal sphingomyelinase activity;juvenile or variant form;Puerto Rican;clinically affected;tested and negative for the three most common mutations in SMPD1;i.e.;R496L (607608.0001);L302P (607608.0010);and P330fsX382 (607608.0011).

text: PUERTO RICAN

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Niemann-pick disease: type unspecified

text: GM02895 male affected Niemann-pick disease: type unspecified sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 33 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 50% of normal sphingomyelinase activity;clinically unaffected mother of GM02895;tested and negative for the three most common mutations in SMPD1;i.e.;R496L (607608.0001);L302P (607608.0010);and P330fsX382 (607608.0011).

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Niemann-pick disease: type unspecified

text: GM02896 female unaffected Niemann-pick disease: type unspecified sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 25 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 50% of normal sphingomyelinase activity;clinically unaffected father of GM02895;tested and negative for the three most common mutations in SMPD1;i.e.;R496L (607608.0001);L302P (607608.0010);and P330fsX382 (607608.0011).

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Niemann-pick disease: type unspecified

text: GM02897 male unaffected Niemann-pick disease: type unspecified sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 25 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;Finnish;same patient. as GM00194;in 158 metaphases;late replication studies showed 102 normal X chromosomes and 56 abnormal X chromosomes as late replicating

text: proband

text: 46;X;t(X;3)(Xpter>Xq28::3q21>3qter;3pter>3q21::Xq28>Xqter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM02899 female unaffected Translocated chromosome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 3 WK

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Bilateral cleft lip and palate;brachydactyly and clinodactyly

characteristic: description

text: 46;XX;del(1)(pter>q23.3::q32.1>qter);46;XX;del(1)(pter>q23::q32>qter);arr 1q31.1q31.2(188046632-191002084)x3;1q31.3q41(192669122-218294132)x3

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

characteristic: tag

text: GM02906 female unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy;46;XY;6% of cells show random chromosome loss/gain

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Apparently healthy non-fetal tissue

text: GM02912 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Neuraminidase deficiency

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 6 times the normal level of sialic acid in fibroblasts;approximately 8% of normal sialidase activity

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Neuraminidase deficiency

text: GM02921 male affected Neuraminidase deficiency sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 58% of normal sialidase activity using NAN-lactose as substrate;clinically unaffected father of GM02921

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Neuraminidase deficiency

text: GM02922 male unaffected Neuraminidase deficiency sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 29 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 62% of normal sialidase activity using NAN-lactose as substrate;clinically unaffected mother of GM02921

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Neuraminidase deficiency

text: GM02923 female unaffected Neuraminidase deficiency sample


text: Coriell

text: live

text: Generic

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal

characteristic: description

text: proband

text: 46;XX;t(13;18)(13qter>13p13::18q12.2> 18qter;18pter>18q12.2::13p13>13pter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM02927 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Mucopolysaccharidosis type iiib

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;clinically affected;donor subject is homozygous for a C>T transversion at nucleotide 1073 of the NAGLU gene (1073C>T) resulting in a substitution of leucine for proline at codon 358 Pro358Leu (P358L)

text: JEWISH

characteristic: ethnicity

text: NAGLU

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: NAGLU

characteristic: tag

text: Mucopolysaccharidosis type iiib

text: N-acetylglucosaminidase, alpha-

text: GM02931 female affected Mucopolysaccharidosis type iiib sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;B.S. Registry #3;born at term;birth weight = 1;760 grams;at age 17 years: weight = 55.5 kg;height = 161.3 cm;sun sensitive facial telangiectasias;undescended testes;acanthosis nigricans;diabetes mellitus;chromosomal breakage;increased sister chromatid exchange in fibroblasts;increased post UV irradiation unscheduled DNA synthesis;donor subject is homozygous for a 6-bp deletion/7-bp insertion 6-bp del/7-bp ins at nucleotide 2;281 of the open reading frame of the RECQL3 gene;which results in a frameshift and a stop codon;same donor as GM00811.

text: JEWISH

characteristic: family id

text: proband

text: 6-BP DEL/7-BP INS

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: BLM

text: Bloom syndrome

text: Recq protein-like 3

text: GM02932 male affected RECQL3 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 16 YR

characteristic: age

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Arab;skin biopsy (labialscrotal fold);similarly affected sister;parents are 1st cous;elevated blood testosterone/ dihydrotestosterone ratio;46;XY in leukocytes and fibroblasts;presumed 5-alpha reductase deficiency

text: ARABIAN

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: PPSH

text: GM02935 female affected Pseudovaginal perineoscrotal hypospadias sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 20 DA

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mexican;skin biopsy (leg);46;XY;8% of cells show random loss of one chromosome and 2% show random gain of one chromosome;12% show breakage in chromosomes #1;#2;and #6

characteristic: description

text: MEXICAN

characteristic: ethnicity

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM02936 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;XY;skin biopsy;8% of cells show chromosome structural abnormalities

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM02937 male unaffected Apparently healthy non-fetal tissue sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Digeorge syndrome

text: 2 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;unbalanced chromosome translocation and DiGeorge syndrome;double outlet right ventricle.

text: 46;XY;+der(20)(20pter->20q11.1::22q11.2->22qter);-22.arr 20p13q11.1(9292-28264860)x3;22q11.1q11.21(15244885-18853334)x1;46;XY;+der(20)(20pter>20q11.2::22q11.2>22qter);-22

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: DGS

text: Translocated chromosome

text: Digeorge syndrome

text: GM02944 male affected Digeorge syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Recombinant chromosome

text: 3 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Partial trisomy 1 with multiple congenital malformations (high arched palate;hypertelorism;shield chest;earlobe anomalies;craniosynostosis;ventricular septal defect)

text: 46;XX;rec(1)(pter>p22:: q32>q31::p22>qter)pat;46;XX;rec(1)dup(q)ins(1)(pter>p22::q32>q31::p22>qter)pat

text: Homo sapiens

text: Caucasian

text: Female

text: Recombinant chromosome

text: GM02946 female affected Recombinant chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Microcephaly;cebocephaly;microphthalmia;and polydactyly

text: Homo sapiens

text: Caucasian

text: Male

text: Aneuploid chromosome number - trisomy 13

text: Aneuploid chromosome number - trisomy

text: GM02948 male unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

text: Generic

text: Diabetes mellitus

text: 23 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Onset at age 11;see GM03027 Lymphoid

characteristic: description

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Diabetes mellitus

text: IDDM

text: Juvenile-onset insulin-dependent

text: GM02956 male affected Diabetes mellitus sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 23 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: A child has partial trisomy 6p+

text: 46;XX;inv(6)(pter>p23::q21>p23::q21> qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Inverted chromosome

text: GM02957 female unaffected Inverted chromosome sample


text: Coriell

text: live

text: Generic

text: 13 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Insensitivity to pain

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: GM02958 male affected Neuropathy, congenital sensory, with anhidrosis sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Collagen type i alpha-2

text: 8 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Broad boned;normal fibroblast alkaline phosphatase activity;neonatal lethal form;synthesizes shortened pro alpha 2(I) chains;compound heterozygote;mRNA of 1 allele shows deletion in exon 28 (amino acids 448 to 465)

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Collagen type i alpha-2

text: Osteogenesis imperfecta: genetics uncertain, lethal

text: GM02962 female affected Collagen type i alpha-2 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 3 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Unusual facies;hirsute;broad hands and feet;teeth overgrown with fibrous tissue

text: 46;XY;t(3;17)(17qter->17q25::3p21->3qter;17pter->17q25::3p21->3pter).arr(1-22)x2;(XY)x1;46;XY;t(3;17)(3qter>3p21::17q25>17qter;17pter>17q25::3p21>3pter)

text: Homo sapiens

text: Black

text: Male

text: Translocated chromosome

text: GM02963 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Cockayne syndrome type unspecified

text: 25 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Atypical;late age of onset;lack of ocular and retinal lesions;see GM02965 Fibroblast;lymphoid culture shows hypersensitivity to UV irradiation

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Cockayne syndrome type unspecified

text: GM02964 female affected Cockayne syndrome type unspecified sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Cockayne syndrome type unspecified

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Atypical;late age of onset;lack of ocular and retinal lesions;see GM02964A Lymphoblast;complementation group A

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Cockayne syndrome type unspecified

text: GM02965 female affected Cockayne syndrome type unspecified sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: TSD

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;no detectable hexosaminidase A activity by electrophoresis;no detectable alpha chain synthesis;no detectable alpha chain mRNA;1 alpha chain allele has a splice junction mutation and the other a 4 bp insertion in exon 11

text: ASHKENAZI

characteristic: ethnicity

text: proband

text: HEXA

characteristic: gene

text: 4-BP INS

text: Homo sapiens

text: Caucasian

text: Female

text: Tay-sachs disease

characteristic: tag

text: Hexosaminidase a

text: TSD

text: HEXA

text: GM02968 female affected TSD sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Retinoblastoma

text: 5 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: 46;X;t(X;13)(Xqter>Xp22::13q12>13qter;13pter>13q12::Xp22>Xpter);balanced;abnormal X is late replicating

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Sporadic

text: Retinoblastoma

text: GM02971 female affected Retinoblastoma sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epidermodysplasia verruciformis

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Erupted skin;higher than normal UV induced unscheduled DNA synthesis;same patient as GM02973

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epidermodysplasia verruciformis

text: GM02972 male affected Epidermodysplasia verruciformis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epidermodysplasia verruciformis

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Uninvolved skin;same patient as GM02972

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epidermodysplasia verruciformis

text: GM02973 male affected Epidermodysplasia verruciformis sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Father of an affected child;proband not in Repository;cells are not sensitive to cell-killing by mitomycin C or diepoxybutane

text: parent

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: GM02975 male unaffected Fanconi anemia complementation group undetermined sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 43 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mother of an affected child;proband not in Repository;cells are not sensitive to cell-killing by mitomycin C or diepoxybutane

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM02976 female unaffected Fanconi anemia complementation group undetermined sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 52 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;cells are not sensitive to cell-killing by mitomycin C or diepoxybutane;affected child is GM00646.

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Fanconi anemia, complementation group a

text: FANCA

text: GM02977 male unaffected Fanconi anemia, complementation group a sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;presence of anti-H in plasma

text: Homo sapiens

text: Caucasian

text: Female

text: Fucosyltransferase 1

text: GM02979 female unaffected Fucosyltransferase 1 sample


text: Coriell

text: live

text: Generic

text: 12 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM02980 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epidermodysplasia verruciformis

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: French;warts;squamous cell carcinoma of skin;negative family history

characteristic: description

text: FRENCH

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Epidermodysplasia verruciformis

text: GM02984 male affected Epidermodysplasia verruciformis sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 19 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Skin biopsy (leg);46;XY/46;XY;t(7;9);14% of cells have the t(7;9) and 26% of cells show random chromosome loss;culture grows slowly

text: 46;XY;46;XY;t(7;9)(7pter>7q36::9q12>9qter;9pter>9q12::7q36>qter) 7 /46;XY 43;46;XY;t(7;9) 28 /46;XY;t(11;21) 10 /46;XY;t(1;12) 8 /46;XY;t(6;8;12) 6 /46;XY;t(7;9);add(11) 4 /47;XY;+7 4 /46;XY 40

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM02987 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: 8 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Egyptian;XP1CA;parents are 1st cousins;onset of skin symptoms at one year of age;photophobia;microcephaly and mental deficiency probably from birth;1 similarly affected sib;hypersensitive to UV cell killing and mutagenesis;donor subject is homozygous for a deletion C at nucleotide 374 (374delC) in exon 3 of the XPA gene which results in a frameshift which causes a translation termination.

text: EGYPTIAN

characteristic: family id

text: proband

text: XPA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: XPA

text: GM02990 female affected Xeroderma pigmentosum, complementation group a sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 6 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Egyptian;XP2CA;parents are 1st cousins;onset of skin symptoms at one year of age;photophobia;microcephaly and mental deficiency probably from birth;2 similarly affected sibs;donor subject is homozygous for a deletion C at nucleotide 374 (374delC) in exon 3 of the XPA gene which results in a frameshift which causes a translation termination.

text: EGYPTIAN

text: first cousin

text: XPA

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: XPA

text: GM02991 male affected Xeroderma pigmentosum, complementation group a sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 13 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Egyptian;XP3CA;onset of skin symptoms at age 3;photophobia;no CNS involvement;1 similarly affected sib

characteristic: description

text: EGYPTIAN

text: Homo sapiens

text: Caucasian

text: Female

text: XPC

text: GM02992 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 8 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Egyptian;XP4CA;consanguineous parents;onset of skin symptoms at age 3-4;photophobia;no CNS involvement;tongue and skin neoplasias

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: XPC

text: GM02993 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Egyptian;XP5CA;onset of skin symptoms at one year of age;photophobia;microcephaly and mental deficiency probably from birth;no skin or tongue neoplasia

text: EGYPTIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: XPA

text: GM02994 male affected Xeroderma pigmentosum, complementation group a sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Egyptian;XP6CA;onset of skin symptoms at age 11 months;photophobia;no CNS involvement;leukoplakia and skin neoplasia;1 similarly affected sib

text: EGYPTIAN

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: XPC

text: GM02995 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 7 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Egyptian;XP8CA;no clinical symptoms of XP at time of biopsy but fibroblasts show defective DNA repair;onset of skin symptoms at age 4 months;no photophobia;CNS involvement;or skin neoplasia;1 similarly affected sib

text: EGYPTIAN

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: XPC

text: GM02996 male affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 4 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Egyptian;consanguineous parents;XP7CA;onset of skin symptoms at age 9 months;photophobia;no CNS involvement or skin neoplasia

text: EGYPTIAN

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: XPC

text: GM02997 male affected Xeroderma pigmentosum, complementation group c sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Egyptian;XPH4CA;clinically unaffected

text: EGYPTIAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: XPC

text: GM02998 female unaffected Xeroderma pigmentosum, complementation group c sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 6 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Growth retardation;hypotonia;seizures

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Ring chromosome

text: GM03003 male unaffected Ring chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;mother and daughter have same balanced translocation

text: 46;XX;t(11;16)(11pter>11q13::16p11> 16pter;16qter>16p11::11q13>11qter)

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM03005 female unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital anomalies

text: 46;XX;del(4)(pter->q31.3:).arr 4q31.3q35.2(153482307-191195125)x1;46;XX;del(4)(pter>q31.3:)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Chromosome deletion

text: GM03013 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Seizures;cutaneous;ocular;and gastric telangiectasias;father;daughter;and grandfather were also affected

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: HHT

characteristic: tag

text: GM03015 male affected Telangiectasia, hereditary hemorrhagic of rendu, osler and weber sample


text: Coriell

text: live

text: Generic

text: Retinoblastoma

text: 2 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Bilateral;SV40 transform GM01142;100% T-antigen positive;1-5% V-antigen positive;post-crisis line near triploid;multiple rearrangements;all cells have deleted chromosome 13;see GM01484 Lymphoid and GM01142A Fibroblast

text: proband

text: 51~75;XX;del(13)(pter>q14.1::q22.1>qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Sporadic

text: Retinoblastoma

text: GM03022 female affected Retinoblastoma sample

characteristic: title