ID   XPCS2VI
AC   CVCL_XG02
SY   XP-CS2VI; Xeroderma Pigmentosum/Cockayne Syndrome 2 VIllejuif
DR   Wikidata; Q98136299
RX   PubMed=8055625;
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Gly602Asp (c.1805G>A); ClinVar=VCV002138306; Zygosity=Heterozygous (from autologous cell lines XP-CS2; XP-CS2 LCL).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3967; Xeroderma pigmentosum, complementation group D
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_L455 ! XP-CS2
OI   CVCL_L456 ! XP-CS2 LCL
SX   Male
AG   >5Y
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 02-05-24; Version: 10
//
RX   PubMed=8055625; DOI=10.1093/carcin/15.8.1493;
RA   Mezzina M., Eveno E., Chevallier-Lagente O., Benoit A., Carreau M.,
RA   Vermeulen W., Hoeijmakers J.H.J., Stefanini M., Lehmann A.R.,
RA   Weber C.A., Sarasin A.;
RT   "Correction by the ERCC2 gene of UV sensitivity and repair deficiency
RT   phenotype in a subset of trichothiodystrophy cells.";
RL   Carcinogenesis 15:1493-1498(1994).
//