ID   XPCS2VILas
AC   CVCL_XG03
SY   XP-CS2VILas
DR   Wikidata; Q98136301
RX   PubMed=8055625;
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Gly602Asp (c.1805G>A); ClinVar=VCV002138306; Zygosity=Heterozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pLASwt).
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)
HI   CVCL_XG02 ! XPCS2VI
SX   Male
AG   >5Y
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 10-09-24; Version: 11
//
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).
//