ID   XPCS1BD
AC   CVCL_ZU89
SY   95RD112
DR   Wikidata; Q98136279
RX   PubMed=11841555;
RX   PubMed=15572672;
CC   Population: Caucasian; Spanish.
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; c.673-1G>A (G870A); dbSNP=rs1256618339; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=15572672).
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Cys529Ser (c.1586G>C) (G1783C); ClinVar=VCV000129010; Zygosity=Homozygous (PubMed=15572672).
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   28Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
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).
//
RX   PubMed=15572672; DOI=10.1128/mcb.24.24.10670-10680.2004; PMCID=PMC533987;
RA   Thorel F., Constantinou A., Dunand-Sauthier I., Nouspikel T.,
RA   Lalle P., Raams A., Jaspers N.G.J., Vermeulen W., Shivji M.K.K.,
RA   Wood R.D., Clarkson S.G.;
RT   "Definition of a short region of XPG necessary for TFIIH interaction
RT   and stable recruitment to sites of UV damage.";
RL   Mol. Cell. Biol. 24:10670-10680(2004).
//