ID   XP8BE LCL
AC   CVCL_F488
SY   Xeroderma Pigmentosum 8 BEthesda LCL; GM02249; GM02249C; GM2249
DR   CLO; CLO_0032156
DR   BioSample; SAMN00807630
DR   Coriell; GM02249
DR   Wikidata; Q54837390
RX   CelloPub=CLPUB00447;
RX   PubMed=8483505;
RX   PubMed=18809580;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12816; XPC; Simple; p.Val696_Val697insVal (c.2092_2093insGTG); Zygosity=Homozygous (PubMed=18809580).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F487 ! XP8BE
SX   Male
AG   16Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 29-06-23; Version: 16
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=8483505; DOI=10.1038/363185a0;
RA   O'Donovan A., Wood R.D.;
RT   "Identical defects in DNA repair in xeroderma pigmentosum group G and
RT   rodent ERCC group 5.";
RL   Nature 363:185-188(1993).
//
RX   PubMed=18809580; DOI=10.1128/mcb.00781-08;
RA   Bernardes de Jesus B.M., Bjoras M., Coin F., Egly J.-M.;
RT   "Dissection of the molecular defects caused by pathogenic mutations in
RT   the DNA repair factor XPC.";
RL   Mol. Cell. Biol. 28:7225-7235(2008).
//