GM02498

GM02498 LCL from B-Lymphocyte

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

Affected:

Yes

Sex:

Male

Age:

16 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

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

twin

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

XP9BE; 46,XY; 10-20% of normal UV induced unscheduled DNA synthesis in fibroblasts; see GM00676 Fibroblast

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

DNA METHYLATION

Sano et al (Mutation Res 217:141-151,1989) examined DNA methylation in XP cells. The amount of 5-methylcytosine in DNA from XP cell lines was on average about 70% of that in DNA from normal controls. The value observed for this XP cell culture was 81%.

MEX PHENOTYPES

Sklar and Strauss (NATURE 289:417-420,1981) assigned this culture a mex- phenotype based upon its ability to remove O6-MeG from alkylated DNA.

Phenotypic Data

Remarks

XP9BE; 46,XY; 10-20% of normal UV induced unscheduled DNA synthesis in fibroblasts; see GM00676 Fibroblast

Publications

O'Driscoll M, Macpherson P, Xu YZ, Karran P, The cytotoxicity of DNA carboxymethylation and methylation by the model carboxymethylating agent azaserine in human cells. Carcinogenesis20:1855-62 1999

PubMed ID: 10469634

Reardon JT, Mu D, Sancar A, Overproduction, purification, and characterization of the XPC subunit of the human DNA repair excision nuclease. J Biol Chem271:19451-6 1996

PubMed ID: 8702634

Shivji MK, Eker AP, Wood RD, DNA repair defect in xeroderma pigmentosum group C and complementing factor from HeLa cells. J Biol Chem269:22749-57 1994

PubMed ID: 8077226

Reardon JT, Thompson LH, Sancar A, Excision repair in man and the molecular basis of xeroderma pigmentosum syndrome. Cold Spring Harb Symp Quant Biol58:605-17 1993

PubMed ID: 7956075

Zhukovskaya N, Rydberg B, Karran P, Inactive O6-methylguanine-DNA methyltransferase in human cells. Nucleic Acids Res20:6081-90 1992

PubMed ID: 1461738

Rydberg B, Spurr N, Karran P, cDNA cloning and chromosomal assignment of the human O6-methylguanine- DNA methyltransferase. cDNA expression in Escherichia coli and gene expression in human cells. J Biol Chem265:9563-9 1990

PubMed ID: 2188979

Sano H, Shiomi N, Imanishi K, Maie O, Shiomi T, DNA methylation in xeroderma pigmentosum. Mutat Res217:141-51 1989

PubMed ID: 2918867

Sequin, Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome & complementation group C xeroderma pigmentosum patients: Lack of correlation with cancer susceptibility. Am J Hum Genet42:468 (1988):141-51 1988

PubMed ID: 2918867

Otsuka F, Kukita A, Ultraviolet hypersensitivity of Cockayne syndrome lymphoblastoid lines-- the effects of exogenous beta-nicotinamide adenine dinucleotide. Photochem Photobiol44:757-60 1986

PubMed ID: 3562572

Moshell AN, Tarone RE, Newfield SA, Andrews AD, Robbins JH, A simple and rapid method for evaluating the survival of xeroderma pigmentosum lymphoid lines after irradiation with ultraviolet light. In Vitro17:299-307 1981

PubMed ID: 6263790

Sklar R, Strauss B, Removal of O6-methylguanine from DNA of normal and xeroderma pigmentosum-derived lymphoblastoid lines. Nature289:417-20 1981

PubMed ID: 7464910

Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG, Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med80:221-48 1974

PubMed ID: 4811796