• Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val696_Val697insVal (c.2092_2093insGTG); Zygosity=Homozygous (from familial inference of XP8BE; XP9BE).
  

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=6947227; DOI=10.1073/pnas.78.10.6236; PMCID=PMC349013
Ruth Miskin, Ruth Ben-Ishai;
Induction of plasminogen activator by UV light in normal and xeroderma pigmentosum fibroblasts.
Proc. Natl. Acad. Sci. U.S.A. 78:6236-6240(1981)

PubMed=7264357; DOI=10.1111/1523-1747.ep12482447
Yoshisada Fujiwara, Masamitsu Ichihashi, Yoshio Kano, Kaoru Goto, Kenji Shimizu;
A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.
J. Invest. Dermatol. 77:256-263(1981)

PubMed=7163956; DOI=10.1007/BF01543020
James Edward Cleaver;
Rapid complementation method for classifying excision repair-defective xeroderma pigmentosum cell strains.
Somatic Cell Genet. 8:801-810(1982)

PubMed=6492896; DOI=10.1016/0047-6374(84)90044-7
James Edward Cleaver;
DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines.
Mech. Ageing Dev. 27:189-196(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)