ID   XP02RJ
AC   CVCL_ZP85
SY   Xeroderma Pigmentosum 02 Rio de Janeiro
DR   Wikidata; Q98135148
RX   PubMed=23255472;
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Ala28Asp (c.83C>A); ClinVar=VCV000041495; Zygosity=Heterozygous (PubMed=23255472).
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Trp968Cys (c.2904G>C); ClinVar=VCV000041496; Zygosity=Heterozygous (PubMed=23255472).
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)
SX   Male
AG   17Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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RX   PubMed=23255472; DOI=10.1002/humu.22259;
RA   Soltys D.T., Rocha C.R.R., Lerner L.K., de Souza T.A., Munford V.,
RA   Cabral F., Nardo T., Stefanini M., Sarasin A., Cabral-Neto J.B.,
RA   Menck C.F.M.;
RT   "Novel XPG (ERCC5) mutations affect DNA repair and cell survival after
RT   ultraviolet but not oxidative stress.";
RL   Hum. Mutat. 34:481-489(2013).
//