ID   XPCS1LV
AC   CVCL_F620
SY   Xeroderma Pigmentosum/Cockayne Syndrome 2 LeuVen; GM13371
DR   CLO; CLO_0012851
DR   BioSample; SAMN00802338
DR   Coriell; GM13371
DR   Wikidata; Q54846485
RX   PubMed=8317483;
RX   PubMed=9096355;
RX   PubMed=11841555;
CC   Population: Caucasian; Flemish.
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Ser659Valfs*1 (c.1975delA) (2172delA); ClinVar=VCV001696064; Zygosity=Homozygous (PubMed=9096355).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156031; Xeroderma pigmentosum-Cockayne syndrome complex
DI   ORDO; Orphanet_220295; Xeroderma pigmentosum-Cockayne syndrome complex
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 16
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RX   PubMed=8317483; PMCID=PMC1682247;
RA   Vermeulen W., Jaeken J., Jaspers N.G.J., Bootsma D., Hoeijmakers J.H.J.;
RT   "Xeroderma pigmentosum complementation group G associated with
RT   Cockayne syndrome.";
RL   Am. J. Hum. Genet. 53:185-192(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).
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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).
//