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GM01598 Fibroblast

Description:

WISKOTT-ALDRICH SYNDROME; WAS

Affected:

Yes

Sex:

Male

Age:

4 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
Class Other Disorders of Known Biochemistry
Cell Type Fibroblast
Transformant Untransformed
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; no family history of the disease

Characterizations

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Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Clinically affected; no family history of the disease

Publications

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Laskowski TJ, Van Caeneghem Y, Pourebrahim R, Ma C, Ni Z, Garate Z, Crane AM, Li XS, Liao W, Gonzalez-Garay M, Segovia JC, Paschon DE, Rebar EJ, Holmes MC, Kaufman D, Vandekerckhove B, Davis BR, Gene Correction of iPSCs from a Wiskott-Aldrich Syndrome Patient Normalizes the Lymphoid Developmental and Functional Defects Stem cell reports: 2015
PubMed ID: 27396937
 
Day, Human tumor cell strains defective in the repair of alkylation damage. Carcinogenesis1:21 (1980): 1980
PubMed ID: 27396937
 
Paterson, Gamma-ray hypersensitivity and faulty DNA repair in cultured cells from humans exhibiting familial cancer proneness. Proc 6th Int Cong Rad Res, Tokyo(1979) p 484: 1979
PubMed ID: 27396937

External Links

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dbSNP dbSNP ID: 18377
NCBI GTR 301000 WISKOTT-ALDRICH SYNDROME; WAS
OMIM 301000 WISKOTT-ALDRICH SYNDROME; WAS
Omim Description ALDRICH SYNDROME
  ECZEMA-THROMBOCYTOPENIA-IMMUNODEFICIENCY SYNDROME
  IMMUNODEFICIENCY 2; IMD2
  WISKOTT-ALDRICH SYNDROME PROTEIN; WASP
  WISKOTT-ALDRICH SYNDROME; WAS

Culture Protocols

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Passage Frozen 2
Split Ratio 1:3
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
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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