ID   XP124LO LCL
AC   CVCL_ZP64
SY   Xeroderma Pigmentosum 124 LOndon LCL; XPG82; LB82
DR   Wikidata; Q98135262
RX   PubMed=9096355;
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Ala792Val (c.2375C>T) (2572C>T); ClinVar=VCV000016567; Zygosity=Heterozygous (PubMed=9096355).
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Glu960Ter (c.2878G>T) (3075G>T); ClinVar=VCV000016566; Zygosity=Heterozygous (PubMed=9096355).
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_ZN37 ! XP124LO
SX   Male
AG   14Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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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).
//