ID   XP202BA LCL
AC   CVCL_ZU56
DR   Wikidata; Q98135500
RX   PubMed=16990803;
CC   Population: Guatemalan.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg314Glyfs*10 (c.940delC) (C940del-1); ClinVar=VCV003588617; Zygosity=Homozygous (PubMed=16990803).
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)
SX   Male
AG   8Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 10-04-25; Version: 7
//
RX   PubMed=16990803; DOI=10.1038/sj.jid.5700555; PMCID=PMC3031115;
RA   Cleaver J.E., Feeney L., Tang J.Y., Tuttle P.;
RT   "Xeroderma pigmentosum group C in an isolated region of Guatemala.";
RL   J. Invest. Dermatol. 127:493-496(2007).
//