• Mutation; HGNC; 12816; XPC; Simple; p.Arg220Ter (c.658C>T); ClinVar=VCV000550020; Zygosity=Homozygous (from familial inference of XP4RO).
  

PubMed=4778857; DOI=10.1016/0027-5107(73)90062-6
Kleijer W.J., de Weerd-Kastelein E.A., Sluyter M.L., Keijzer W., de Wit J., Bootsma D.
UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes.
Mutat. Res. 20:417-428(1973)

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

PubMed=6096694; DOI=10.1128/mcb.4.11.2341-2346.1984
Abrahams P.J., Huitema B.A., van der Eb A.J.
Enhanced reactivation and enhanced mutagenesis of herpes simplex virus in normal human and xeroderma pigmentosum cells.
Mol. Cell. Biol. 4:2341-2346(1984)

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

PubMed=7825573
Broughton B.C., Thompson A.F., Harcourt S.A., Vermeulen W., Hoeijmakers J.H.J., Botta E., Stefanini M., King M.D., Weber C.A., Cole J., Arlett C.F., Lehmann A.R.
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
Am. J. Hum. Genet. 56:167-174(1995)

PubMed=9804340; DOI=10.1046/j.1523-1747.1998.00391.x
Khan S.G., Levy H.L., Legerski R.J., Quackenbush E., Reardon J.T., Emmert S., Sancar A., Li L., Schneider T.D., Cleaver J.E., Kraemer K.H.
Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.
J. Invest. Dermatol. 111:791-796(1998)