• Mutation; HGNC; HGNC:12816; XPC; Simple; p.Lys431Argfs*6 (c.1292_1293delAA) (1132_1133delAA); ClinVar=VCV000000256; Zygosity=Hemizygous or homozygous (from autologous cell line XP1BE).
  

PubMed=2805228; DOI=10.1093/carcin/10.11.2067
Izumi Arita, Akira Tachibana, Hiraku Takebe, Kouichi Tatsumi;
Predominance of Mex+ cells in newly-established human lymphoblastoid cell lines.
Carcinogenesis 10:2067-2073(1989)

PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283
Ichiro Satokata, Kiyoji Tanaka, Naoyuki Miura, Iwai Miyamoto, Yoshiaki Satoh, Seiji Kondo, Yoshio Okada;
Characterization of a splicing mutation in group A xeroderma pigmentosum.
Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=8327515; DOI=10.1073/pnas.90.13.6335; PMCID=PMC46923
Masahiko S. Satoh, Christopher J. Jones, Richard Dean Wood, Tomas Robert Lindahl;
DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions.
Proc. Natl. Acad. Sci. U.S.A. 90:6335-6339(1993)

PubMed=16081512; DOI=10.1093/carcin/bgi204
Sikandar G. Khan, Kyu-Seon Oh, Tala Shahlavi, Takahiro Ueda, David B. Busch, Hiroki Inui, Steffen Emmert, Kyoko Imoto, Vanessa Muniz-Medina, Carl C. Baker, John Joseph DiGiovanna ...Show all 18 authors... , Deborah Schmidt, Arash Khadavi, Ahmet Metin, Engin Mevlut Gozukara, Hanoch Slor, Alain Sarasin, Kenneth H. Kraemer; Show fewer authors
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
Carcinogenesis 27:84-94(2006)