GM02990

GM02990 Fibroblast

Description:

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

Affected:

Yes

Sex:

Female

Age:

8 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; XP1CA; parents are 1st cousins; onset of skin symptoms at one year of age; photophobia; microcephaly and mental deficiency probably from birth; 1 similarly affected sib; hypersensitive to UV cell killing and mutagenesis; donor subject is homozygous for a deletion C at nucleotide 374 (374delC) in exon 3 of the XPA gene which results in a frameshift which causes a translation termination.

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

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

Gene

XPA

Chromosomal Location

9q22.3-q31

Allelic Variant 1

frameshift; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A

Identified Mutation

374delC

Gene

XPA

Chromosomal Location

9q22.3-q31

Allelic Variant 2

frameshift; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A

Identified Mutation

374delC

Phenotypic Data

Remarks

Publications

Narisu N, Rothwell R, Vrtacnik P, Rodríguez S, Didion J, Zöllner S, Erdos MR, Collins FS, Eriksson M, Analysis of somatic mutations identifies signs of selection during in vitro aging of primary dermal fibroblasts Aging cell:e13010 2018

PubMed ID: 31385397

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, 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, Okada Y, Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene. Hum Genet88:603-7 1992

PubMed ID: 1339397

Kochevar IE, Walsh AA, Green HA, Sherwood M, Shih AG, Sutherland BM, DNA damage induced by 193-nm radiation in mammalian cells. Cancer Res51:288-93 1991

PubMed ID: 1988091

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

Jaeken J, Klocker H, Schwaiger H, Bellmann R, Hirsch-Kauffmann M, Schweiger M, Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. Hum Genet83:339-46 1989

PubMed ID: 2478446

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

Tatsumi K, Toyoda M, Hashimoto T, Furuyama J, Kurihara T, Inoue M, Takebe H, Differential hypersensitivity of xeroderma pigmentosum lymphoblastoid cell lines to ultraviolet light mutagenesis. Carcinogenesis8:53-7 1987

PubMed ID: 3802395

Zamansky GB, Varying sensitivity of human skin fibroblasts to polychromatic ultraviolet light. Mutat Res160:55-60 1986

PubMed ID: 3951456

Zamansky GB, Minka DF, Deal CL, Hendricks K, The in vitro photosensitivity of systemic lupus erythematosus skin fibroblasts. J Immunol134:1571-6 1985

PubMed ID: 3968426

Grosovsky AJ, Little JB, Mutagenesis and lethality following S phase irradiation of xeroderma pigmentosum and normal human diploid fibroblasts with ultraviolet light. Carcinogenesis4:1389-93 1983

PubMed ID: 6640842

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

Zamansky GB, Little JB, Survival of 60Co-irradiated herpes simplex virus in 15 human diploid fibroblast cell strains. Mutat Res94:245-55 1982

PubMed ID: 6287252

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

Miskin R, Ben-Ishai R, Induction of plasminogen activator by UV light in normal and xeroderma pigmentosum fibroblasts. Proc Natl Acad Sci U S A78:6236-40 1981

PubMed ID: 6947227

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