ID   XP4PA-SV-EB
AC   CVCL_F625
SY   GM15983
DR   CLO; CLO_0018741
DR   Coriell; GM15983
DR   Wikidata; Q54994956
RX   PubMed=1660831;
RX   PubMed=10681431;
RX   PubMed=14662655;
RX   PubMed=18955168;
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=UniProtKB; P03211; Epstein-Barr virus (strain B95-8) EBNA1.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pLASwt).
CC   Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_6E33 ! XP4PA(SV)
SX   Male
AG   Fetus
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 16
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RX   PubMed=1660831; DOI=10.1016/0378-1119(91)90328-9;
RA   Peterson C.A., Legerski R.J.;
RT   "High-frequency transformation of human repair-deficient cell lines by
RT   an Epstein-Barr virus-based cDNA expression vector.";
RL   Gene 107:279-284(1991).
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RX   PubMed=10681431; DOI=10.1073/pnas.040559697; PMCID=PMC15769;
RA   Emmert S., Kobayashi N., Khan S.G., Kraemer K.H.;
RT   "The xeroderma pigmentosum group C gene leads to selective repair of
RT   cyclobutane pyrimidine dimers rather than 6-4 photoproducts.";
RL   Proc. Natl. Acad. Sci. U.S.A. 97:2151-2156(2000).
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RX   PubMed=14662655; DOI=10.1093/hmg/ddh026;
RA   Khan S.G., Metin A., Gozukara E.M., Inui H., Shahlavi T.,
RA   Muniz-Medina V., Baker C.C., Ueda T., Aiken J.R., Schneider T.D.,
RA   Kraemer K.H.;
RT   "Two essential splice lariat branchpoint sequences in one intron in a
RT   xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC
RT   mRNA levels that correlate with cancer risk.";
RL   Hum. Mol. Genet. 13:343-352(2004).
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RX   PubMed=18955168; DOI=10.1016/j.dnarep.2008.09.007; PMCID=PMC2684809;
RA   Khan S.G., Oh K.-S., Emmert S., Imoto K., Tamura D., DiGiovanna J.J.,
RA   Shahlavi T., Armstrong N., Baker C.C., Neuburg M., Zalewski C.,
RA   Brewer C.C., Wiggs E., Schiffmann R., Kraemer K.H.;
RT   "XPC initiation codon mutation in xeroderma pigmentosum patients with
RT   and without neurological symptoms.";
RL   DNA Repair 8:114-125(2009).
//