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GM03022 Fibroblast from Skin, Unspecified

Description:

RETINOBLASTOMA, SPORADIC

Affected:

Yes

Sex:

Female

Age:

2 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
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Simian Virus 40
Sample Source Fibroblast from Skin, Unspecified
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 51~75, XX, del(13)(pter>q14.1::q22.1>qter)
Species Homo sapiens
Common Name Human
Remarks 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

Characterizations

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Passage Frozen 49
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis
 
Cytogenetics Chromosome 13: DELETION Aneuploid Segment (-)13q14>13q22

Phenotypic Data

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Remarks 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

Publications

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Protic-Sabljic M, Kraemer KH, Host cell reactivation by human cells of DNA expression vectors damaged by ultraviolet radiation or by acid-heat treatment. Carcinogenesis7:1765-70 1986
PubMed ID: 3463438
 
Protic-Sabljic M, Kraemer KH, One pyrimidine dimer inactivates expression of a transfected gene in xeroderma pigmentosum cells. Proc Natl Acad Sci U S A82:6622-6 1985
PubMed ID: 2995975

External Links

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dbSNP dbSNP ID: 14960
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 49
Split Ratio 1:2
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 20% 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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