GM00710

GM00710 Fibroblast

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA

Affected:

Yes

Sex:

Male

Age:

1 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

Family Member

Relation to Proband

proband

Confirmation

Biochemical characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

De Sanctis-Cacchione; XP25RO; ATCC CRL 1261; 0 to 5% of normal post UV light induced unscheduled DNA synthesis; the donor subject is homozygous for a C-to-T substitution at nucleotide 619 (619C>T) which alters the Arg-207 codon (CGA) to a nonsense codon (TGA) in exon 5 of the XPA gene [Arg207Ter (R207X)].

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Gene

XPA

Chromosomal Location

9q22.3-q31

Allelic Variant 1

278700.0005; XERODERMA PIGMENTOSUM, TYPE A

Identified Mutation

ARG207TER; In a Palestinian patient with severe symptoms of XP, Satokata et al. [Mutat. Res. 273: 193-202, (1992)] found homozygosity for a nucleotide transition altering the arg207 codon (CGA) to a nonsense codon (TGA).

Gene

XPA

Chromosomal Location

9q22.3-q31

Allelic Variant 2

278700.0005; XERODERMA PIGMENTOSUM, TYPE A

Identified Mutation

Phenotypic Data

Remarks

Publications

Wiese C, Rudolph JH, Jakob B, Fink D, Tobias F, Blattner C, Taucher-Scholz G, PCNA-dependent accumulation of CDKN1A into nuclear foci after ionizing irradiation DNA repair: 2011

PubMed ID: 22456500

Langie SA, Knaapen AM, Brauers KJ, van Berlo D, van Schooten FJ, Godschalk RW, Development and validation of a modified comet assay to phenotypically assess nucleotide excision repair Mutagenesis21:153-8 2006

PubMed ID: 16556641

Jakob B, Scholz M, Taucher-Scholz G, Characterization of CDKN1A (p21) binding to sites of heavy-ion-induced damage: colocalization with proteins involved in DNA repair International journal of radiation biology78:75-88 2002

PubMed ID: 11779358

States JC, McDuffie ER, Myrand SP, McDowell M, Cleaver JE, Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. Hum Mutat12:103-13 1998

PubMed ID: 9671271

Abramova NA, Russell J, Botchan M, Li R, Interaction between replication protein A and p53 is disrupted after UV damage in a DNA repair-dependent manner. Proc Natl Acad Sci U S A94:7186-91 1997

PubMed ID: 9207066

Tu Y, Bates S, Pfeifer GP, Sequence-specific and domain-specific DNA repair in xeroderma pigmentosum and Cockayne syndrome cells. J Biol Chem272:20747-55 1997

PubMed ID: 9252397

Parshad RP, Sanford KK, Price FM, Melnick LK, Nee LE, Schapiro MB, Tarone RE, Robbins JH, Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture. Proc Natl Acad Sci U S A93:5146-50 1996

PubMed ID: 8643543

Vermeulen W, Scott RJ, Rodgers S, Muller HJ, Cole J, Arlett CF, Kleijer WJ, Bootsma D, Hoeijmakers JH, Weeda G, Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am J Hum Genet54(2):191-200 1994

PubMed ID: 8304337

Evans MK, Robbins JH, Ganges MB, Tarone RE, Nairn RS, Bohr VA, Gene-specific DNA repair in xeroderma pigmentosum complementation groups A, C, D, and F. Relation to cellular survival and clinical features. J Biol Chem268:4839-47 1993

PubMed ID: 8444862

Zhen W, Evans MK, Haggerty CM, Bohr VA, Deficient gene specific repair of cisplatin-induced lesions in Xeroderma pigmentosum and Fanconi's anemia cell lines. Carcinogenesis14:919-24 1993

PubMed ID: 8504485

Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y, Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc Natl Acad Sci U S A87:9908-12 1990

PubMed ID: 1702221

Kantor GJ, Hull DR, The rate of removal of pyrimidine dimers in quiescent cultures of normal human and xeroderma pigmentosum cells. Mutat Res132(1-2):21-31 1984

PubMed ID: 6472315

Legerski RJ, Brown DB, Peterson CA, Robberson DL, Transient complementation of xeroderma pigmentosum cells by microinjection of poly(A)+ RNA. Proc Natl Acad Sci U S A81:5676-9 1984

PubMed ID: 6207527

Thielmann HW, Fischer E, Dzarlieva RT, Komitowski D, Popanda O, Edler L, Spontaneous in vitro malignant transformation in a xeroderma pigmentosum fibroblast line. Int J Cancer31:687-700 1983

PubMed ID: 6862680

Rainbow AJ, Howes M, A deficiency in the repair of UV and gamma-ray damaged DNA in fibroblasts from Cockayne's syndrome. Mutat Res93:235-47 1982

PubMed ID: 7062933

Squires S, Johnson RT, Collins AR, Initial rates of DNA incision in UV-irradiated human cells: differences between normal, xeroderma pigmentosum and tumour cells. Mutat Res95:389-404 1982

PubMed ID: 7121492

Jaspers NG, Jansen-van de Kuilen G, Bootsma D, Complement analysis of xeroderma pigmentosum variants. Exp Cell Res136:81-90 1981

PubMed ID: 7297615

Kaufmann WK, Cleaver JE, Mechanisms of inhibition of DNA replication by ultraviolet light in normal human and xeroderma pigmentosum fibroblasts. J Mol Biol149:171-87 1981

PubMed ID: 7310880

Matsukuma S, Zelle B, Keijzer W, Berends F, Bootsma D, Different rates of restoration of the repair capacity in complementing xeroderma pigmentosum cells after fusion. Exp Cell Res134:103-12 1981

PubMed ID: 7250211

Lehmann AR, Kirk-Bell S, Arlett CF, Harcourt SA, de Weerd-Kastelein EA, Keijzer W, Hall-Smith P, Repair of ultraviolet light damage in a variety of human fibroblast cell strains. Cancer Res37:904-10 1977

PubMed ID: 837385

Kraemer KH, De Weerd-Kastelein EA, Robbins JH, Keijzer W, Barrett SF, Petinga RA, Bootsma D, Five complementation groups in xeroderma pigmentosum. Mutat Res33:327-40 1975

PubMed ID: 1243579

Weerd-Kastelein EA de, Keijzer W, Bootsma D, A third complementation group in xeroderma pigmentosum. Mutat Res22:87-91 1974

PubMed ID: 4842087

Kleijer WJ, Weerd-Kastelein EA de, Sluyter ML, Keijzer W, Wit J de, Bootsma D, UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes. Mutat Res20:417-28 1973

PubMed ID: 4778857