ID   XP12RO
AC   CVCL_VP50
SY   XP12RO-SV40; XP12RO(SV40); XP12ROSV
DR   Wikidata; Q98135282
RX   PubMed=1372102;
RX   PubMed=1549511;
RX   PubMed=1702221;
RX   PubMed=2823132;
RX   PubMed=3118197;
RX   PubMed=4436596;
RX   PubMed=6256643;
RX   PubMed=6307543;
RX   PubMed=7163956;
RX   PubMed=7273335;
RX   PubMed=7519740;
RX   PubMed=7671243;
RX   PubMed=8055625;
RX   PubMed=8464385;
RX   PubMed=9415314;
RX   PubMed=10334196;
CC   Population: Palestinian.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Arg207Ter (c.619C>T); ClinVar=VCV000000996; Zygosity=Homozygous (PubMed=1372102; PubMed=8464385).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
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   12Y
CA   Transformed cell line
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 10
//
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=1549511; DOI=10.1093/nar/20.5.991; PMCID=PMC312081;
RA   Jones C.J., Cleaver J.E., Wood R.D.;
RT   "Repair of damaged DNA by extracts from a xeroderma pigmentosum
RT   complementation group A revertant and expression of a protein absent
RT   in its parental cell line.";
RL   Nucleic Acids Res. 20:991-995(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=2823132; DOI=10.1016/0167-8817(87)90024-1;
RA   Vuksanovic L., Cleaver J.E.;
RT   "Unique cross-link and monoadduct repair characteristics of a
RT   xeroderma pigmentosum revertant cell line.";
RL   Mutat. Res. 184:255-263(1987).
//
RX   PubMed=3118197; DOI=10.1128/mcb.7.9.3353-3357.1987; PMCID=PMC367978;
RA   Cleaver J.E., Cortes F., Lutze-Mann L.H., Morgan W.F., Player A.N.,
RA   Mitchell D.L.;
RT   "Unique DNA repair properties of a xeroderma pigmentosum revertant.";
RL   Mol. Cell. Biol. 7:3353-3357(1987).
//
RX   PubMed=4436596; DOI=10.1111/1523-1747.ep12676556;
RA   Der Kaloustian V.M., de Weerd-Kastelein E.A., Kleijer W.J., Keijzer W.,
RA   Bootsma D.;
RT   "The genetic defect in the de Sanctis-Cacchione syndrome.";
RL   J. Invest. Dermatol. 63:392-396(1974).
//
RX   PubMed=6256643; DOI=10.1038/288724a0;
RA   Day R.S. 3rd, Ziolkowski C.H.J., Scudiero D.A., Meyer S.A.,
RA   Lubiniecki A.S., Girardi A.J., Galloway S.M., Bynum G.D.;
RT   "Defective repair of alkylated DNA by human tumour and
RT   SV40-transformed human cell strains.";
RL   Nature 288:724-727(1980).
//
RX   PubMed=6307543; DOI=10.1093/carcin/4.8.1075;
RA   Teo I.A., Lehmann A.R., Muller R., Rajewsky M.F.;
RT   "Similar rate of O6-ethylguanine elimination from DNA in normal human
RT   fibroblast and xeroderma pigmentosum cell strains not transformed by
RT   SV40.";
RL   Carcinogenesis 4:1075-1077(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=7273335; DOI=10.1093/carcin/2.6.567;
RA   Simon L., Hazard R.M., Maher V.M., McCormick J.J.;
RT   "Enhanced cell killing and mutagenesis by ethylnitrosourea in
RT   xeroderma pigmentosum cells.";
RL   Carcinogenesis 2:567-570(1981).
//
RX   PubMed=7519740; DOI=10.1016/0165-7992(94)90014-0;
RA   Jones C.J., Lloyd R.S., Wood R.D.;
RT   "Analysis of cells harboring a putative DNA repair gene reveals a lack
RT   of evidence for a second independent xeroderma pigmentosum group A
RT   correcting gene.";
RL   Mutat. Res. 324:159-164(1994).
//
RX   PubMed=7671243;
RA   Eveno E., Bourre F., Quilliet X., Chevallier-Lagente O., Roza L.,
RA   Eker A.P.M., Kleijer W.J., Nikaido O., Stefanini M., Hoeijmakers J.H.J.,
RA   Bootsma D., Cleaver J.E., Sarasin A., Mezzina M.;
RT   "Different removal of ultraviolet photoproducts in genetically related
RT   xeroderma pigmentosum and trichothiodystrophy diseases.";
RL   Cancer Res. 55:4325-4332(1995).
//
RX   PubMed=8055625; DOI=10.1093/carcin/15.8.1493;
RA   Mezzina M., Eveno E., Chevallier-Lagente O., Benoit A., Carreau M.,
RA   Vermeulen W., Hoeijmakers J.H.J., Stefanini M., Lehmann A.R.,
RA   Weber C.A., Sarasin A.;
RT   "Correction by the ERCC2 gene of UV sensitivity and repair deficiency
RT   phenotype in a subset of trichothiodystrophy cells.";
RL   Carcinogenesis 15:1493-1498(1994).
//
RX   PubMed=8464385; DOI=10.1093/mutage/8.2.155;
RA   McDowell M.L., Nguyen T., Cleaver J.E.;
RT   "A single-site mutation in the XPAC gene alters photoproduct
RT   recognition.";
RL   Mutagenesis 8:155-161(1993).
//
RX   PubMed=9415314; DOI=10.1038/sj.gt.3300495;
RA   Zeng L., Quilliet X., Chevallier-Lagente O., Eveno E., Sarasin A.,
RA   Mezzina M.;
RT   "Retrovirus-mediated gene transfer corrects DNA repair defect of
RT   xeroderma pigmentosum cells of complementation groups A, B and C.";
RL   Gene Ther. 4:1077-1084(1997).
//
RX   PubMed=10334196; DOI=10.1093/carcin/20.5.799;
RA   O'Driscoll M., Martinelli S., Ciotta C., Karran P.;
RT   "Combined mismatch and nucleotide excision repair defects in a human
RT   cell line: mismatch repair processes methylation but not UV- or
RT   ionizing radiation-induced DNA damage.";
RL   Carcinogenesis 20:799-804(1999).
//