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AG05012 Fibroblast from Skin, Skin

Description:

COCKAYNE SYNDROME TYPE A - 216400

Affected:

Yes

Sex:

Female

Age:

11 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Class Repair Defective and Chromosomal Instability Syndromes
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Skin
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX
Species Homo sapiens
Common Name Human
Remarks The donor has clinical features of short stature, mental deficiency, ataxia, retinal degeneration, senile-like changes, and a positive family history. The cell morphology is fibroblast-like. The karyotype is 46,XX; normal diploid female. Culture was frozen at passage 5 and PDL is not known. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Characterizations

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Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 

Phenotypic Data

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Remarks The donor has clinical features of short stature, mental deficiency, ataxia, retinal degeneration, senile-like changes, and a positive family history. The cell morphology is fibroblast-like. The karyotype is 46,XX; normal diploid female. Culture was frozen at passage 5 and PDL is not known. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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Tuo J, Jaruga P, Rodriguez H, Bohr VA, Dizdaroglu M, Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress. FASEB J17(6):668-74 2003
PubMed ID: 12665480

External Links

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dbSNP dbSNP ID: 20501
Gene Cards CKN1
Gene Ontology GO:0003702 RNA polymerase II transcription factor activity
GO:0005515 protein binding
GO:0005634 nucleus
GO:0006281 DNA repair
GO:0006355 regulation of transcription, DNA-dependent
GO:0007605 perception of sound
NCBI Gene Gene ID:1161
NCBI GTR 216400 COCKAYNE SYNDROME A; CSA
OMIM 216400 COCKAYNE SYNDROME A; CSA
Omim Description COCKAYNE SYNDROME, TYPE A; CSA
  COCKAYNE SYNDROME, TYPE I; CKN1

Culture Protocols

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Passage Frozen 5
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
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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How to Order
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