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GM02995 Fibroblast

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

Affected:

Yes

Sex:

Male

Age:

10 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 Disorders of Nucleotide and Nucleic Acid Metabolism
Class Repair Defective and Chromosomal Instability Syndromes
Cell Type Fibroblast
Transformant Untransformed
Race White
Ethnicity EGYPTIAN
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Egyptian; XP6CA; onset of skin symptoms at age 11 months; photophobia; no CNS involvement; leukoplakia and skin neoplasia; 1 similarly affected sib

Characterizations

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Passage Frozen 3
 
SPONTANEOUS TRANSFORMATION Nagasawa et al (J Invest Dermatol 88:149-153,1987) observed that cells from this Xeroderma pigmentosum patient while being serially passaged (1:4 dilution) changed their size and growth characteristics. By passage 13, approximately 90% of the colonies produced by cells seeded at low density were composed of small, densely packed cells. Cells capable of anchorage-independent growth were observed after passage 7; they formed round, smooth-edged colonies in soft agar. The frequency of cells exhibiting anchorage-independent growth increased rapidly at subsequent passages, reaching 35-50% of the population by passage 20. This phenomenon was accompanied by the appearance of aneuploidy. The cells were still proliferating at passage 35. These late-passage GM02995 cells retain the extreme hypersensitivity to the cytotoxic effect of UV radiation characteristic of early-passage GM02995 cells.
 

Phenotypic Data

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Remarks Egyptian; XP6CA; onset of skin symptoms at age 11 months; photophobia; no CNS involvement; leukoplakia and skin neoplasia; 1 similarly affected sib

Publications

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Azzam EI, Nagasawa H, Yu Y, Li CY, Little JB, Cell cycle deregulation and xeroderma pigmentosum group C cell transformation. J Invest Dermatol119(6):1350-4 2002
PubMed ID: 12485438
 
Kumar S, Talis AL, Howley PM, Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination. J Biol Chem274:18785-92 1999
PubMed ID: 10373495
 
Nagasawa H, Burke MJ, Little FF, McCone EF, Chan GL, Little JB, Multiple abnormalities in the ultraviolet light response of cultured fibroblasts derived from patients with the basal cell nevus syndrome. Teratog Carcinog Mutagen8:25-33 1988
PubMed ID: 2897722
 
Nagasawa H, Zamansky GB, McCone EF, Arundel CM, Matkin E, Little JB, Spontaneous transformation to anchorage-independent growth of a xeroderma pigmentosum fibroblast cell strain. J Invest Dermatol88:149-53 1987
PubMed ID: 3805755
 
Nagasawa H, Little JB, Suppression of cytotoxic effect of mitomycin-C by superoxide dismutase in Fanconi's anemia and dyskeratosis congenita fibroblasts. Carcinogenesis4:795-9 1983
PubMed ID: 6409437
 
Cleaver JE, Zelle B, Hashem N, El-Hefnawi MH, German J, Xeroderma pigmentosum patients from Egypt: II. Preliminary correlations of epidemiology, clinical symptoms and molecular biology. J Invest Dermatol77:96-101 1981
PubMed ID: 7252263
 
Hashem N, Bootsma D, Keijzer W, Greene A, Coriell L, Thomas G, Cleaver JE, Clinical characteristics, DNA repair, and complementation groups in xeroderma pigmentosum patients from Egypt. Cancer Res40:13-8 1980
PubMed ID: 7349892

External Links

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Gene Ontology GO:0003684 damaged DNA binding
GO:0003697 single-stranded DNA binding
GO:0005634 nucleus
GO:0006289 nucleotide-excision repair
NCBI Gene Gene ID:7508
NCBI GTR 278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
OMIM 278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
Omim Description XERODERMA PIGMENTOSUM III; XP3
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
  XP, GROUP C
  XPCC

Culture Protocols

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Passage Frozen 3
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
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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