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GM06419 Fibroblast from Skin, Unspecified

Description:

RETINOBLASTOMA; RB1 OSTEOSARCOMA, RETINOBLASTOMA-RELATED, INCLUDED

Affected:

Yes

Sex:

Male

Age:

1 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • 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
Ethnicity PERSIAN
Family Member 2
Relation to Proband son
Confirmation Clinical summary/Case history
ISCN 46,XY
Species Homo sapiens
Common Name Human
Remarks Persian; bilateral stage IV retinoblastoma; diagnosed at age 8 mos; skin fibroblast culture; 46,XY; similarly affected father

Characterizations

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Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 

Phenotypic Data

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Remarks Persian; bilateral stage IV retinoblastoma; diagnosed at age 8 mos; skin fibroblast culture; 46,XY; similarly affected father

Publications

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Azzam EI, De Toledo SM, Spitz DR, Little JB, Oxidative metabolism modulates signal transduction and micronucleus formation in bystander cells from alpha-particle-irradiated normal human fibroblast cultures. Cancer Res62(19):5436-42 2002
PubMed ID: 12359750
 
Azzam EI, de Toledo SM, Waker AJ, Little JB, High and low fluences of alpha-particles induce a G1 checkpoint in human diploid fibroblasts. Cancer Res60(10):2623-31 2000
PubMed ID: 10825133
 
de Toledo SM, Azzam EI, Dahlberg WK, Gooding TB, Little JB, ATM complexes with HDM2 and promotes its rapid phosphorylation in a p53-independent manner in normal and tumor human cells exposed to ionizing radiation. Oncogene19(54):6185-93 2000
PubMed ID: 11175332
 
Kumar S, Talis AL, Howley PM, Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination. J Biol Chem274:18785-92 1999
PubMed ID: 10373495
 
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
 
Li CY, Nagasawa H, Dahlberg WK, Little JB, Diminished capacity for p53 in mediating a radiation-induced G1 arrest in established human tumor cell lines. Oncogene11:1885-92 1995
PubMed ID: 7478618

External Links

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dbSNP dbSNP ID: 22906
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

Culture Protocols

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Passage Frozen 2
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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