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GM00914 Fibroblast from Conjunctiva, Conjunctiva

Description:

RETINOBLASTOMA, SPORADIC

Affected:

Yes

Sex:

Male

Age:

2 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Ophthalmologic Disorders
Biopsy Source Conjunctiva
Cell Type Fibroblast
Tissue Type Conjunctiva
Transformant Untransformed
Sample Source Fibroblast from Conjunctiva, Conjunctiva
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Unilateral; conjunctiva fibroblast culture; 46,XY,9qh+; same patient as GM00913

Characterizations

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Passage Frozen 3
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Unilateral; conjunctiva fibroblast culture; 46,XY,9qh+; same patient as GM00913

External Links

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dbSNP dbSNP ID: 15228
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 3
Split Ratio 1:3
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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