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GM00368 Fibroblast from Skin, Arm

Description:

FANCONI ANEMIA COMPLEMENTATION GROUP UNDETERMINED

Affected:

Yes

Sex:

Male

Age:

8 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
Chromosome Abnormalities
Class Repair Defective and Chromosomal Instability Syndromes
Class Syndromes with Increased Chromosome Breakage
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Arm
Race Black/African American
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY
Species Homo sapiens
Common Name Human
Remarks Clinically affected; homozygous; multiple chromosome breaks; increased chromosome aberrations following treatment with mitomycin-C; also referred to as subject C17 in publication by Elmore and Swift (1975, PMID 1214005).

Characterizations

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Passage Frozen 11
 
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 Clinically affected; homozygous; multiple chromosome breaks; increased chromosome aberrations following treatment with mitomycin-C; also referred to as subject C17 in publication by Elmore and Swift (1975, PMID 1214005).

Publications

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Fu KL, Thuss PC, Fujino T, Digweed M, Liu JM, Walsh CE, Retroviral gene transfer for the assignment of Fanconi anemia (FA) patients to a FA complementation group. Hum Genet102:166-9 1998
PubMed ID: 9521584
 
Ruppitsch W, Meisslitzer C, Weirich-Schwaiger H, Klocker H, Scheidereit C, Schweiger M, Hirsch-Kauffmann M, The role of oxygen metabolism for the pathological phenotype of Fanconi anemia. Hum Genet99:710-9 1997
PubMed ID: 9187662
 
Berger NA, Berger SJ, Catino DM, Abnormal NAD+ levels in cells from patients with Fanconi's anaemia. Nature299:271-3 1982
PubMed ID: 6810184
 
Zakrzewski S, Sperling K, Analysis of heterogeneity in Fanconi's anemia patients of different ethnic origin Human genetics62:321-3 1982
PubMed ID: 6819986
 
Smith PJ, Paterson MC, Abnormal responses to mid-ultraviolet light of cultured fibroblasts from patients with disorders featuring sunlight sensitivity. Cancer Res41:511-8 1981
PubMed ID: 6256067
 
Gupta RS, Goldstein S, Diphtheria toxin resistance in human fibroblast cell strains from normal and cancer-prone individuals. Mutat Res73:331-8 1980
PubMed ID: 7464842
 
Raj AS, Heddle JA, The effect of superoxide dismutase, catalase and L-cysteine on spontaneous and on mitomycin C induced chromosomal breakage in Fanconi's anemia and normal fibroblasts as measured by the micronucleus method. Mutat Res78:59-66 1980
PubMed ID: 6991929
 
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 484:59-66 1979
PubMed ID: 6991929
 
Lubiniecki AS, Blattner WA, Dosik H, Sun C, Fraumeni JF Jr, SV40 T-antigen expression in skin fibroblasts from clinically normal individuals and from ten cases of Fanconi anemia. Am J Hematol2:33-40 1977
PubMed ID: 194477
 
Elmore E, Swift M, Growth of cultured cells from patients with Fanconi anemia Journal of cellular physiology87:229-33 1975
PubMed ID: 1214005

External Links

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dbSNP dbSNP ID: 22446

Culture Protocols

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Passage Frozen 11
Split Ratio 1:2
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 10% 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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