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GM01880 Fibroblast from Skin, Unspecified

Description:

RETINOBLASTOMA; RB1 OSTEOSARCOMA, RETINOBLASTOMA-RELATED, INCLUDED

Affected:

Yes

Sex:

Female

Age:

37 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Hereditary Cancers
Class Ophthalmologic Disorders
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Unspecified
Race White
Family Member 2
Relation to Proband mother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Unilateral retinoblastoma; benign right para-ovarian cyst at 24; multiple leiomyomas of uterus at 29; 46,XX in leukocytes; skin fibroblast culture; moderate hypersensitivity to cell killing by ionizing radiation and bleomycin

Characterizations

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Passage Frozen 7
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Unilateral retinoblastoma; benign right para-ovarian cyst at 24; multiple leiomyomas of uterus at 29; 46,XX in leukocytes; skin fibroblast culture; moderate hypersensitivity to cell killing by ionizing radiation and bleomycin

Publications

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Sanford KK, Parshad R, Price FM, Tarone RE, Benedict WF, Cytogenetic responses to G2 phase x-irradiation of cells from retinoblastoma patients. Cancer Genet Cytogenet88:43-8 1996
PubMed ID: 8630978
 
Nagasawa H, Little JB, Tsang NM, Saunders E, Tesmer J, Strniste GF, Effect of dose rate on the survival of irradiated human skin fibroblasts. Radiat Res132:375-9 1992
PubMed ID: 1475361
 
Little JB, Nichols WW, Troilo P, Nagasawa H, Strong LC, Radiation sensitivity of cell strains from families with genetic disorders predisposing to radiation-induced cancer. Cancer Res49:4705-14 1989
PubMed ID: 2758405
 
Weichselbaum RR, Tomkinson K, Little JB, Repair of potentially lethal X-ray damage in fibroblasts derived from patients with hereditary and D-deletion retinoblastoma. Int J Radiat Biol Relat Stud Phys Chem Med47:445-56 1985
PubMed ID: 3872857
 
Nagasawa H, Little JB, Comparison of kinetics of X-ray-induced cell killing in normal, ataxia telangiectasia and hereditary retinoblastoma fibroblasts. Mutat Res109:297-308 1983
PubMed ID: 6843573
 
Barfknecht TR, Little JB, Survival of hereditary retinoblastoma human skin fibroblasts after treatment with DNA-damaging chemicals. Mutat Res105:189-94 1982
PubMed ID: 6815522
 
Nagasawa, Comparison of kinetics of x-ray induced cell killing in normal, AT, and retinoblastoma fibroblasts. Radiat Res91:301 (1982):189-94 1982
PubMed ID: 6815522
 
Nove J, Weichselbaum RR, Nichols WW, Albert DM, Little JB, In vitro studies of fibroblasts from patients with retinoblastoma. Int Ophthalmol Clin20:211-22 1980
PubMed ID: 6995388
 
Weichselbaum RR, Little JB, Familial retinoblastoma and ataxia telangiectasia: human models for the study of DNA damage and repair. Cancer45:775-9 1980
PubMed ID: 7357494
 
Weichselbaum RR, Nove J, Albert D, Little JB, An in vitro investigation of genetic susceptibility to cancer in diploid fibroblasts from retinoblastoma patients. Teratog Carcinog Mutagen1:171-9 1980
PubMed ID: 6119809
 
Weichselbaum RR, Nove J, Little JB, X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders. Cancer Res40:920-5 1980
PubMed ID: 7471105
 
Nove J, Little JB, Weichselbaum RR, Nichols WW, Hoffman E, Retinoblastoma, chromosome 13, and in vitro cellular radiosensitivity. Cytogenet Cell Genet24:176-84 1979
PubMed ID: 477414
 
Little, X-ray sensitivity of fibroblasts from patients with retinoblastoma and with abnormalities of chromosome 13. (from DNA Repair Mechanisms, Academic Press, Inc) "DNA Repair Mechanisms"1978, pp 685:176-84 1978
PubMed ID: 477414
 
Little, Biological consequences of X-ray induced DNA damage and repair processes in relation to cell killing and carcinogenesis (from DNA Repair Mechanisms, Academic Press, Inc) "DNA Repair Mechanisms"1978, pp 701:176-84 1978
PubMed ID: 477414
 
Weichselbaum RR, Nove J, Little JB, X-ray sensitivity of diploid fibroblasts from patients with hereditary or sporadic retinoblastoma. Proc Natl Acad Sci U S A75:3962-4 1978
PubMed ID: 279012

External Links

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dbSNP dbSNP ID: 16400
Gene Ontology GO:0000075 cell cycle checkpoint
GO:0000122 negative regulation of transcription from Pol II promoter
GO:0000785 chromatin
GO:0003700 transcription factor activity
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-dependent
GO:0045786 negative regulation of cell cycle
NCBI Gene Gene ID:5925
NCBI GTR 180200 RETINOBLASTOMA; RB1
OMIM 180200 RETINOBLASTOMA; RB1
Omim Description p105-Rb, INCLUDED
  RETINOBLASTOMA; RB1OSTEOSARCOMA, RETINOBLASTOMA-RELATED, INCLUDED

Images

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View pedigree 

Culture Protocols

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Passage Frozen 7
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
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International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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