ID   XP125LO
AC   CVCL_W053
SY   Xeroderma Pigmentosum 125 LOndon
DR   Wikidata; Q54994879
RX   PubMed=1372100;
RX   PubMed=3620347;
RX   PubMed=9096355;
RX   PubMed=11841555;
RX   PubMed=18079351;
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Ala792Val (c.2375C>T) (2572C>T); ClinVar=VCV000016567; Zygosity=Heterozygous (from autologous cell line XP125LO LCL).
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Glu960Ter (c.2878G>T) (3075G>T); ClinVar=VCV000016566; Zygosity=Heterozygous (from autologous cell line XP125LO LCL).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3969; Xeroderma pigmentosum, complementation group G
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_2572 ! XP125LO LCL
SX   Female
AG   12Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 14
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RX   PubMed=1372100; DOI=10.1016/0921-8777(92)90078-H;
RA   Cole J., Arlett C.F., Norris P.G., Stephens G., Waugh A.P.W.,
RA   Beare D.M., Green M.H.L.;
RT   "Elevated hprt mutant frequency in circulating T-lymphocytes of
RT   xeroderma pigmentosum patients.";
RL   Mutat. Res. 273:171-178(1992).
//
RX   PubMed=3620347; DOI=10.1111/j.1365-2133.1987.tb04906.x;
RA   Norris P.G., Hawk J.L.M., Avery J.A., Giannelli F.;
RT   "Xeroderma pigmentosum complementation group G -- report of two cases.";
RL   Br. J. Dermatol. 116:861-866(1987).
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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).
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RX   PubMed=11841555; DOI=10.1046/j.0022-202x.2001.01673.x;
RA   Lalle P., Nouspikel T., Constantinou A., Thorel F., Clarkson S.G.;
RT   "The founding members of xeroderma pigmentosum group G produce XPG
RT   protein with severely impaired endonuclease activity.";
RL   J. Invest. Dermatol. 118:344-351(2002).
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RX   PubMed=18079351; DOI=10.1259/bjr/27072321;
RA   Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.;
RT   "Minimal ionizing radiation sensitivity in a large cohort of xeroderma
RT   pigmentosum fibroblasts.";
RL   Br. J. Radiol. 81:51-58(2008).
//