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AG12797 Fibroblast from Skin, Thigh

Description:

WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED

Affected:

Yes

Sex:

Male

Age:

36 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
Biopsy Source Thigh
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Thigh
Race Asian
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks The donor had features of short stature, bird-like appearance, gray hair, skin hyperpigmentation, juvenile bilateral cataracts, atrophic skin and subcutaneous tissue, diabetes and hypogonadism. The family history is negative, but parents are consanguineous. The biopsy was taken ante-mortem and stored frozen. The culture was initiated on 11/12/92 using explants of minced skin tissue. The cell morphology is fibroblast-like. Same donor as AG05233A.

Characterizations

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PDL at Freeze 4.47
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 The donor had features of short stature, bird-like appearance, gray hair, skin hyperpigmentation, juvenile bilateral cataracts, atrophic skin and subcutaneous tissue, diabetes and hypogonadism. The family history is negative, but parents are consanguineous. The biopsy was taken ante-mortem and stored frozen. The culture was initiated on 11/12/92 using explants of minced skin tissue. The cell morphology is fibroblast-like. Same donor as AG05233A.

Publications

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Kyng KJ, May A, Stevnsner T, Becker KG, Kølvrå S, Bohr VA, Gene expression responses to DNA damage are altered in human aging and in Werner Syndrome Oncogene24:5026-42 2005
PubMed ID: 15897889
 
Kyng KJ, May A, Kolvraa S, Bohr VA, Gene expression profiling in Werner syndrome closely resembles that of normal aging. Proc Natl Acad Sci U S A100(21):12259-64 2003
PubMed ID: 14527998
 
Wyllie FS, Jones CJ, Skinner JW, Haughton MF, Wallis C, Wynford-Thomas D, Faragher RG, Kipling D, Telomerase prevents the accelerated cell ageing of Werner syndrome fibroblasts. Nat Genet24(1):16-7 2000
PubMed ID: 10615119
 
Spillare EA, Robles AI, Wang XW, Shen JC, Yu CE, Schellenberg GD, Harris CC, p53-mediated apoptosis is attenuated in Werner syndrome cells. Genes Dev13:1355-60 1999
PubMed ID: 10364153
 
Goto M, Tanimoto K, Horiuchi Y, Sasazuki T, Family analysis of Werner's syndrome: a survey of 42 Japanese families with a review of the literature. Clin Genet19:8-15 1981
PubMed ID: 7460386

External Links

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dbSNP dbSNP ID: 10280
Gene Cards RECQL2
GEO GEO Accession No: GSM1184272
GEO Accession No: GSM1184273
GEO Accession No: GSM1184292
GEO Accession No: GSM1184293
NCBI GTR 277700 WERNER SYNDROME; WRN
OMIM 277700 WERNER SYNDROME; WRN
Omim Description WERNER SYNDROME; WRNREPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED

Culture Protocols

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Cumulative PDL at Freeze 9.47
Passage Frozen 7
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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