ID   XP5GO
AC   CVCL_ZP77
DR   Wikidata; Q98135976
RX   PubMed=16794584;
CC   Population: Iraqi.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Lys642Ilefs*20 (c.1923_1934delins25); Zygosity=Homozygous (PubMed=16794584).
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   Female
AG   4Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=16794584; DOI=10.1038/sj.jid.5700452;
RA   Emmert S., Wetzig T., Imoto K., Khan S.G., Oh K.-S., Laspe P.,
RA   Zachmann K., Simon J.C., Kraemer K.H.;
RT   "A novel complex insertion/deletion mutation in the XPC DNA repair
RT   gene leads to skin cancer in an Iraqi family.";
RL   J. Invest. Dermatol. 126:2542-2544(2006).
//