• Mutation; HGNC; HGNC:12816; XPC; Simple; p.Pro334His (c.1001C>A); ClinVar=VCV000000253; Zygosity=Homozygous (PubMed=18809580).
  

PubMed=7389185; DOI=10.1111/j.1399-0004.1980.tb00112.x
Hananian J., Cleaver J.E.
Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus.
Clin. Genet. 17:39-45(1980)

PubMed=6492896; DOI=10.1016/0047-6374(84)90044-7
Cleaver J.E.
DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines.
Mech. Ageing Dev. 27:189-196(1984)

PubMed=3003928; DOI=10.1007/BF01560723
Canaani D., Naiman T., Teitz T., Berg P.
Immortalization of xeroderma pigmentosum cells by simian virus 40 DNA having a defective origin of DNA replication.
Somat. Cell Mol. Genet. 12:13-20(1986)

CLPUB00447
Mulivor R.A., Suchy S.F.
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=18809580; DOI=10.1128/mcb.00781-08; PMCID=PMC2593387
Bernardes de Jesus B.M., Bjoras M., Coin F., Egly J.-M.
Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC.
Mol. Cell. Biol. 28:7225-7235(2008)

PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242
Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M., Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)