• 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).
  

PubMed=1660831; DOI=10.1016/0378-1119(91)90328-9
Peterson C.A., Legerski R.J.
High-frequency transformation of human repair-deficient cell lines by an Epstein-Barr virus-based cDNA expression vector.
Gene 107:279-284(1991)

PubMed=10681431; DOI=10.1073/pnas.040559697; PMCID=PMC15769
Emmert S., Kobayashi N., Khan S.G., Kraemer K.H.
The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts.
Proc. Natl. Acad. Sci. U.S.A. 97:2151-2156(2000)

PubMed=14662655; DOI=10.1093/hmg/ddh026
Khan S.G., Metin A., Gozukara E.M., Inui H., Shahlavi T., Muniz-Medina V., Baker C.C., Ueda T., Aiken J.R., Schneider T.D., Kraemer K.H.
Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.
Hum. Mol. Genet. 13:343-352(2004)

PubMed=18955168; DOI=10.1016/j.dnarep.2008.09.007; PMCID=PMC2684809
Khan S.G., Oh K.-S., Emmert S., Imoto K., Tamura D., DiGiovanna J.J., Shahlavi T., Armstrong N., Baker C.C., Neuburg M., Zalewski C., Brewer C.C., Wiggs E., Schiffmann R., Kraemer K.H.
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
DNA Repair 8:114-125(2009)