ID   XP125LO LCL
AC   CVCL_2572
SY   Xeroderma Pigmentosum 125 LOndon LCL; XPG83; XPG 83; LB83
DR   ECACC; 98062328
DR   Wikidata; Q54902092
RX   PubMed=7951246;
RX   PubMed=8327515;
RX   PubMed=8483504;
RX   PubMed=8483505;
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   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Glu960Ter (c.2878G>T) (3075G>T); ClinVar=VCV000016566; Zygosity=Heterozygous (PubMed=7951246).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3969; Xeroderma pigmentosum, complementation group G
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_W053 ! XP125LO
SX   Female
AG   15Y
CA   Transformed cell line
DT   Created: 06-06-12; Last updated: 19-12-24; Version: 16
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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=8327515; DOI=10.1073/pnas.90.13.6335; PMCID=PMC46923;
RA   Satoh M.S., Jones C.J., Wood R.D., Lindahl T.R.;
RT   "DNA excision-repair defect of xeroderma pigmentosum prevents removal
RT   of a class of oxygen free radical-induced base lesions.";
RL   Proc. Natl. Acad. Sci. U.S.A. 90:6335-6339(1993).
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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).
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RX   PubMed=8483505; DOI=10.1038/363185a0;
RA   O'Donovan A., Wood R.D.;
RT   "Identical defects in DNA repair in xeroderma pigmentosum group G and
RT   rodent ERCC group 5.";
RL   Nature 363:185-188(1993).
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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).
//