ID   XP4PA(SV)
AC   CVCL_6E33
SY   XP4PA-SV; XP4PA-SVwt; XP4PA-SV40; XP4PALas
DR   JCRB; KURB1064
DR   Wikidata; Q54994957
RX   PubMed=1660831;
RX   PubMed=3029584;
RX   PubMed=8298653;
RX   PubMed=9012405;
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Heterozygous (PubMed=8298653).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pLASwt).
CC   Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Fetus
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 12
//
RX   PubMed=1660831; DOI=10.1016/0378-1119(91)90328-9;
RA   Peterson C.A., Legerski R.J.;
RT   "High-frequency transformation of human repair-deficient cell lines by
RT   an Epstein-Barr virus-based cDNA expression vector.";
RL   Gene 107:279-284(1991).
//
RX   PubMed=3029584; DOI=10.1016/0167-8817(87)90061-7;
RA   Daya-Grosjean L., James M.R., Drougard C., Sarasin A.;
RT   "An immortalized xeroderma pigmentosum, group C, cell line which
RT   replicates SV40 shuttle vectors.";
RL   Mutat. Res. 183:185-196(1987).
//
RX   PubMed=8298653; DOI=10.1038/ng1293-413;
RA   Li L., Bales E.S., Peterson C.A., Legerski R.J.;
RT   "Characterization of molecular defects in xeroderma pigmentosum group
RT   C.";
RL   Nat. Genet. 5:413-417(1993).
//
RX   PubMed=9012405; PMCID=PMC1712398;
RA   Weeda G., Eveno E., Donker I., Vermeulen W., Chevallier-Lagente O.,
RA   Taieb A., Stary A., Hoeijmakers J.H.J., Mezzina M., Sarasin A.;
RT   "A mutation in the XPB/ERCC3 DNA repair transcription gene, associated
RT   with trichothiodystrophy.";
RL   Am. J. Hum. Genet. 60:320-329(1997).
//