GM02994

GM02994 Fibroblast

Description:

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

Affected:

Yes

Sex:

Male

Age:

4 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

Alternate IDs

GM17378 [XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA]

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Ethnicity

EGYPTIAN

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Egyptian; XP5CA; onset of skin symptoms at one year of age; photophobia; microcephaly and mental deficiency probably from birth; no skin or tongue neoplasia

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

XPA

Chromosomal Location

9q22.3-q31

Allelic Variant 1

; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A

Identified Mutation

c.507-2A>G (IVS3-2A>G)

Gene

XPA

Chromosomal Location

9q22.3-q31

Allelic Variant 2

; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A

Identified Mutation

c.507-2A>G (IVS3-2A>G)

Phenotypic Data

Remarks

Egyptian; XP5CA; onset of skin symptoms at one year of age; photophobia; microcephaly and mental deficiency probably from birth; no skin or tongue neoplasia

Publications

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

Satokata I, Uchiyama M, Tanaka K, Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum. Hum Mol Genet4:1993-4 1995

PubMed ID: 8595429

Satokata I, Tanaka K, Miura N, Narita M, Mimaki T, Satoh Y, Kondo S, Okada Y, Three nonsense mutations responsible for group A xeroderma pigmentosum. Mutat Res273:193-202 1992

PubMed ID: 1372102

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

Blum M, Baumann I, Lohrer H, Rahmsdorf HJ, Herrlich P, A promising genomic transfectant into Xeroderma pigmentosum group A with highly amplified mouse DNA and intermediate UV resistance turns revertant. Biochem Biophys Res Commun160:647-55 1989

PubMed ID: 2719687

Gomer CJ, Rucker N, Murphree AL, Differential cell photosensitivity following porphyrin photodynamic therapy. Cancer Res48:4539-42 1988

PubMed ID: 2969280

Wood CM, Timme TL, Hurt MM, Brinkley BR, Ledbetter DH, Moses RE, Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid. Exp Cell Res169:543-53 1987

PubMed ID: 3030788

Hurt MM, Moses RE, Conversion of replicative intermediates in human DNA-repair defective cells. Exp Cell Res163:396-404 1986

PubMed ID: 3956584

Cleaver JE, DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines. Mech Ageing Dev27:189-96 1984

PubMed ID: 6492896

Boorstein R, Campisi J, Pardee AB, The study of DNA-repair defects using [125I]iododeoxycytidine incorporation as an assay for the growth of herpes simplex virus. Mutat Res112:85-95 1983

PubMed ID: 6300669

Campisi J, Hafner J, Boorstein R, Pardee AB, Hereditary orotic aciduria, Lesch-Nyhan syndrome, and xeroderma pigmentosum probed by herpes simplex virus: 125I-iododeoxycytidine incorporation as an assay for viral growth. J Cell Physiol114:21-8 1983

PubMed ID: 6826658

Hurt MM, Beaudet AL, Moses RE, Stable low molecular weight DNA in xeroderma pigmentosum cells. Proc Natl Acad Sci U S A80:6987-91 1983

PubMed ID: 6196782

Kuhnlein U, Tsang SS, Lokken O, Tong S, Twa D, Cell lines from xeroderma pigmentosum complementation group A lack a single-stranded-DNA-binding activity. Biosci Rep3:667-74 1983

PubMed ID: 6684957

Cleaver JE, Rapid complementation method for classifying excision repair-defective xeroderma pigmentosum cell strains. Somatic Cell Genet8:801-10 1982

PubMed ID: 7163956

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