GM02995

GM02995 Fibroblast

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

Affected:

Yes

Sex:

Male

Age:

10 YR (At Sampling)

Overview

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

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

Passage Frozen

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

Remarks

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

Publications

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