ID   XPCS1RO
AC   CVCL_ZP68
SY   Xeroderma Pigmentosum/Cockayne Syndrome 1 ROtterdam; 94RD27
DR   Wikidata; Q98136284
RX   PubMed=9096355;
RX   PubMed=9716445;
RX   PubMed=11841555;
CC   Population: Caucasian; Moroccan.
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Gly926Profs (c.2775delT) (2972delT); ClinVar=VCV000016568; Zygosity=Unspecified (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   Male
AG   7M
CA   Finite 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).
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RX   PubMed=9716445; DOI=10.1006/excr.1998.4147;
RA   Ellison A.R., Nouspikel T., Jaspers N.G.J., Clarkson S.G.,
RA   Gruenert D.C.;
RT   "Complementation of transformed fibroblasts from patients with
RT   combined xeroderma pigmentosum-Cockayne syndrome.";
RL   Exp. Cell Res. 243:22-28(1998).
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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).
//