ID   XP3BR LCL
AC   CVCL_ZP69
SY   Xeroderma Pigmentosum 3 BRighton; LBL463; LB463; 463
DR   Wikidata; Q98135753
RX   PubMed=11841555;
RX   PubMed=15572672;
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Asp499Ilefs*23 (c.1494delA); ClinVar=VCV000016575; Zygosity=Heterozygous (PubMed=11841555).
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Lys917Asnfs*64 (c.2751delA); ClinVar=VCV000016576; Zygosity=Heterozygous (PubMed=11841555).
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_M286 ! XP3BR
SX   Male
AG   6-7Y
CA   Transformed 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).
//