ID   XP226BA
AC   CVCL_ZU53
DR   Wikidata; Q98135542
RX   PubMed=27543334;
CC   Population: Guatemalan.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg314Glyfs*10 (c.940delC) (C940del-1); ClinVar=VCV003588617; Zygosity=Homozygous (PubMed=27543334).
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)
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 10-04-25; Version: 8
//
RX   PubMed=27543334; DOI=10.1073/pnas.1610020113; PMCID=PMC5018765;
RA   Reid-Bayliss K.S., Arron S.T., Loeb L.A., Bezrookove V., Cleaver J.E.;
RT   "Why Cockayne syndrome patients do not get cancer despite their DNA
RT   repair deficiency.";
RL   Proc. Natl. Acad. Sci. U.S.A. 113:10151-10156(2016).
//