• 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
Carolyn A. Peterson, Randy J. Legerski;
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
Steffen Emmert, Nobuhiko Kobayashi, Sikandar G. Khan, Kenneth H. Kraemer;
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
Sikandar G. Khan, Ahmet Metin, Engin Mevlut Gozukara, Hiroki Inui, Tala Shahlavi, Vanessa Muniz-Medina, Carl C. Baker, Takahiro Ueda, Juliet R. Aiken, Thomas D. Schneider, Kenneth H. Kraemer;
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
Sikandar G. Khan, Kyu-Seon Oh, Steffen Emmert, Kyoko Imoto, Deborah Tamura, John Joseph DiGiovanna, Tala Shahlavi, Najealicka Armstrong, Carl C. Baker, Marcy Neuburg, Christopher Zalewski ...Show all 15 authors... , Carmen C. Brewer, Edythe Wiggs, Raphael Schiffmann, Kenneth H. Kraemer; Show fewer authors
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
DNA Repair 8:114-125(2009)