• Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg735Ter (c.2203C>T) (C2282T); ClinVar=VCV000001701; Zygosity=Homozygous (PubMed=10767341).
  

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=7565859; DOI=10.1016/0921-8777(95)00015-C
John P.G. Volpe, James Edward Cleaver;
Xeroderma pigmentosum variant cells are resistant to immortalization.
Mutat. Res. 337:111-117(1995)

PubMed=10767341; DOI=10.1093/hmg/9.8.1171
Stefano Colella, Tiziana Nardo, Elena Botta, Alan R. Lehmann, Miria Stefanini;
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum.
Hum. Mol. Genet. 9:1171-1175(2000)

PubMed=10771487; DOI=10.1046/j.1523-1747.2000.00952.x
Toshiki Itoh, Stuart M. Linn, Tomomichi Ono, Masaru Yamaizumi;
Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them.
J. Invest. Dermatol. 114:1022-1029(2000)