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NG12799 DNA from Fibroblast

Description:

WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES

Affected:

Yes

Sex:

Male

Age:

25 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Quantity 10ug
Quantitation Method Please see our FAQ
Biopsy Source Thigh
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source DNA from Fibroblast
Race Asian
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 44-46,Y,-X,+multiple aberations
Species Homo sapiens
Common Name Human
Remarks The donor had features of short stature, gray hair, hyperpigmentation of skin, juvenile bilateral cataracts, atrophic skin and subcutaneous tissue, and hypogonadism. Diabetes was not detected at time of biopsy. The family history is negative and the parents are nonconsanguineous. The culture was initiated on 12/10/92 from primary cells which had been frozen. The cell morphology is fibroblast-like. Same donor as AG05229.

Characterizations

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PDL at Freeze 4.96
Passage Frozen 9
 
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, gray hair, hyperpigmentation of skin, juvenile bilateral cataracts, atrophic skin and subcutaneous tissue, and hypogonadism. Diabetes was not detected at time of biopsy. The family history is negative and the parents are nonconsanguineous. The culture was initiated on 12/10/92 from primary cells which had been frozen. The cell morphology is fibroblast-like. Same donor as AG05229.

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
 
Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA, Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. J Med Genet41(4):304-8 2004
PubMed ID: 15060110
 
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
 
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: 10281
Gene Cards RECQL2
NCBI GTR 277700 WERNER SYNDROME; WRN
OMIM 277700 WERNER SYNDROME; WRN
Omim Description WERNER SYNDROME; WRNREPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
Pricing
Commercial:
$155.00USD
Academic &
Non-profit:
$72.00USD
NIA Grantees:
$62.00USD
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How to Order
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