• Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val696_Val697insVal (c.2092_2093insGTG); Zygosity=Homozygous (from autologous cell line XP9BE).
  

PubMed=6096450; DOI=10.1111/1523-1747.ep12260999
Otsuka F., Tarone R.E., Cayeux S., Robbins J.H.
Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome.
J. Invest. Dermatol. 82:480-484(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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=7519740; DOI=10.1016/0165-7992(94)90014-0
Jones C.J., Lloyd R.S., Wood R.D.
Analysis of cells harboring a putative DNA repair gene reveals a lack of evidence for a second independent xeroderma pigmentosum group A correcting gene.
Mutat. Res. 324:159-164(1994)

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