ID   LB81
AC   CVCL_2570
SY   XPG81
DR   ECACC; 98062327
DR   Wikidata; Q54902087
RX   PubMed=7951246;
RX   PubMed=8483504;
RX   PubMed=9096355;
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Ala792Val (c.2375C>T) (2572C>T); ClinVar=VCV000016567; Zygosity=Heterozygous (PubMed=7951246).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   37Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 14
//
RX   PubMed=7951246; DOI=10.1093/hmg/3.6.963;
RA   Nouspikel T., Clarkson S.G.;
RT   "Mutations that disable the DNA repair gene XPG in a xeroderma
RT   pigmentosum group G patient.";
RL   Hum. Mol. Genet. 3:963-967(1994).
//
RX   PubMed=8483504; DOI=10.1038/363182a0;
RA   Scherly D., Nouspikel T., Corlet J., Ucla C., Bairoch A.,
RA   Clarkson S.G.;
RT   "Complementation of the DNA repair defect in xeroderma pigmentosum
RT   group G cells by a human cDNA related to yeast RAD2.";
RL   Nature 363:182-185(1993).
//
RX   PubMed=9096355; DOI=10.1073/pnas.94.7.3116; PMCID=PMC20331;
RA   Nouspikel T., Lalle P., Leadon S.A., Cooper P.K., Clarkson S.G.;
RT   "A common mutational pattern in Cockayne syndrome patients from
RT   xeroderma pigmentosum group G: implications for a second XPG
RT   function.";
RL   Proc. Natl. Acad. Sci. U.S.A. 94:3116-3121(1997).
//