ID   XP5CA
AC   CVCL_L771
SY   Xeroderma Pigmentosum 5 CAiro; GM02994; GM2994; GM17378
DR   CLO; CLO_0012578
DR   CLO; CLO_0013699
DR   BioSample; SAMN00808202
DR   Coriell; GM02994
DR   Coriell; GM17378
DR   Wikidata; Q54837795
RX   CelloPub=CLPUB00447;
RX   PubMed=1372102;
RX   PubMed=1702221;
RX   PubMed=3030788;
RX   PubMed=6492896;
RX   PubMed=6684957;
RX   PubMed=7163956;
RX   PubMed=7252263;
RX   PubMed=8595429;
RX   PubMed=9671271;
CC   Part of: Human variation panel.
CC   Population: Egyptian.
CC   Senescence: Senesces at 17 PDL (PubMed=6492896).
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; c.507-2A>G (IVS3-2A>G); Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=8595429).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 05-10-23; Version: 21
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=1372102; DOI=10.1016/0921-8777(92)90080-M;
RA   Satokata I., Tanaka K., Miura N., Narita M., Mimaki T., Satoh Y.,
RA   Kondo S., Okada Y.;
RT   "Three nonsense mutations responsible for group A xeroderma
RT   pigmentosum.";
RL   Mutat. Res. 273:193-202(1992).
//
RX   PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283;
RA   Satokata I., Tanaka K., Miura N., Miyamoto I., Satoh Y., Kondo S.,
RA   Okada Y.;
RT   "Characterization of a splicing mutation in group A xeroderma
RT   pigmentosum.";
RL   Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990).
//
RX   PubMed=3030788; DOI=10.1016/0014-4827(87)90214-X;
RA   Wood C.M., Timme T.L., Hurt M.M., Brinkley B.R., Ledbetter D.H.,
RA   Moses R.E.;
RT   "Transformation of DNA repair-deficient human diploid fibroblasts with
RT   a simian virus 40 plasmid.";
RL   Exp. Cell Res. 169:543-553(1987).
//
RX   PubMed=6492896; DOI=10.1016/0047-6374(84)90044-7;
RA   Cleaver J.E.;
RT   "DNA repair deficiencies and cellular senescence are unrelated in
RT   xeroderma pigmentosum cell lines.";
RL   Mech. Ageing Dev. 27:189-196(1984).
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RX   PubMed=6684957; DOI=10.1007/BF01172877;
RA   Kuhnlein U., Tsang S.S., Lokken O., Tong S., Twa D.;
RT   "Cell lines from xeroderma pigmentosum complementation group A lack a
RT   single-stranded-DNA-binding activity.";
RL   Biosci. Rep. 3:667-674(1983).
//
RX   PubMed=7163956; DOI=10.1007/BF01543020;
RA   Cleaver J.E.;
RT   "Rapid complementation method for classifying excision
RT   repair-defective xeroderma pigmentosum cell strains.";
RL   Somatic Cell Genet. 8:801-810(1982).
//
RX   PubMed=7252263; DOI=10.1111/1523-1747.ep12479271;
RA   Cleaver J.E., Zelle B., Hashem N., El-Hefnawi M.H., German J.L. 3rd;
RT   "Xeroderma pigmentosum patients from Egypt: II. Preliminary
RT   correlations of epidemiology, clinical symptoms and molecular
RT   biology.";
RL   J. Invest. Dermatol. 77:96-101(1981).
//
RX   PubMed=8595429; DOI=10.1093/hmg/4.10.1993;
RA   Satokata I., Uchiyama M., Tanaka K.;
RT   "Two novel splicing mutations in the XPA gene in patients with group A
RT   xeroderma pigmentosum.";
RL   Hum. Mol. Genet. 4:1993-1994(1995).
//
RX   PubMed=9671271; DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6;
RA   States J.C., McDuffie E.R., Myrand S.P., McDowell M.L., Cleaver J.E.;
RT   "Distribution of mutations in the human xeroderma pigmentosum group A
RT   gene and their relationships to the functional regions of the DNA
RT   damage recognition protein.";
RL   Hum. Mutat. 12:103-113(1998).
//