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NA02994 DNA from 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
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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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]
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
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

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Passage Frozen 5
 
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

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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

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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

External Links

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dbSNP dbSNP ID: 10588
Gene Cards XPA
Gene Ontology GO:0003684 damaged DNA binding
GO:0005515 protein binding
GO:0005634 nucleus
GO:0006289 nucleotide-excision repair
NCBI Gene Gene ID:7507
NCBI GTR 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
611153 XPA GENE; XPA
OMIM 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
611153 XPA GENE; XPA
Omim Description XERODERMA PIGMENTOSUM I; XP1
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
  XP, GROUP A
  XPA COMPLEMENTING; XPAC
  XPA CORRECTING
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