ID   XP8CA
AC   CVCL_L773
SY   Xeroderma Pigmentosum 8 CAiro; IMG-819 XP8CA; IMG-819; GM02996; GM2996
DR   CLO; CLO_0006885
DR   CLO; CLO_0012587
DR   CLDB; cl2817
DR   BioSample; SAMN00808204
DR   Coriell; GM02996
DR   JCRB; KURB1061
DR   Wikidata; Q54837798
RX   CelloPub=CLPUB00447;
RX   PubMed=2175267;
RX   PubMed=7252263;
RX   PubMed=15744458;
CC   Population: Egyptian.
CC   Sequence variation: Mutation; HGNC; 12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Homozygous (PubMed=15744458).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1M3W
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 29-06-23; Version: 17
//
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=2175267; DOI=10.1016/0014-4827(90)90012-Y;
RA   Klein B., Pastink A., Odijk H., Westerveld A., van der Eb A.J.;
RT   "Transformation and immortalization of diploid xeroderma pigmentosum
RT   fibroblasts.";
RL   Exp. Cell Res. 191:256-262(1990).
//
RX   PubMed=7252263; DOI=10.1111/1523-1747.ep12479271;
RA   Cleaver J.E., Zelle B., Hashem N., El-Hefnawi M.H., German J.L. III;
RT   "Xeroderma pigmentosum patients from Egypt: II. Preliminary
RT   correlations of epidemiology, clinical symptoms and molecular
RT   biology.";
RL   J. Invest. Dermatol. 77:96-101(1981).
//
RX   PubMed=15744458; DOI=10.1007/s10038-004-0228-2;
RA   Ridley A.J., Colley J., Wynford-Thomas D., Jones C.J.;
RT   "Characterisation of novel mutations in Cockayne syndrome type A and
RT   xeroderma pigmentosum group C subjects.";
RL   J. Hum. Genet. 50:151-154(2005).
//