• Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val696_Val697insVal (c.2092_2093insGTG); Zygosity=Homozygous (from familial inference of XP8BE).
  

PubMed=4811796; DOI=10.7326/0003-4819-80-2-221
Jay H. Robbins, Kenneth H. Kraemer, Marvin A. Lutzner, Barry W. Festoff, Hayden G. Coon;
Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.
Ann. Intern. Med. 80:221-248(1974)

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=273925; DOI=10.1073/pnas.75.4.1984; PMCID=PMC392467
Alan D. Andrews, Susanna F. Barrett, Jay H. Robbins;
Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation.
Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978)

PubMed=6096450; DOI=10.1111/1523-1747.ep12260999
Fujio Otsuka, Robert E. Tarone, Sophie Cayeux, Jay H. Robbins;
Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome.
J. Invest. Dermatol. 82:480-484(1984)

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=16990803; DOI=10.1038/sj.jid.5700555; PMCID=PMC3031115
James Edward Cleaver, Luzviminda Feeney, Jean Y. Tang, Peggy Tuttle;
Xeroderma pigmentosum group C in an isolated region of Guatemala.
J. Invest. Dermatol. 127:493-496(2007)