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Cellosaurus XP4PA(SV) (CVCL_6E33)

[Text version]
Cell line name XP4PA(SV)
Synonyms XP4PA-SV; XP4PA-SVwt; XP4PA-SV40; XP4PALas
Accession CVCL_6E33
Resource Identification Initiative To cite this cell line use: XP4PA(SV) (RRID:CVCL_6E33)
Comments Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pLASwt).
Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
Sequence variations
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Heterozygous (PubMed=8298653).
Disease Xeroderma pigmentosum, complementation group C (NCIt: C114770)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_F625 (XP4PA-SV-EB)
Sex of cell Male
Age at sampling Fetus
Category Transformed cell line
Publications

PubMed=3029584; DOI=10.1016/0167-8817(87)90061-7
Daya-Grosjean L., James M.R., Drougard C., Sarasin A.
An immortalized xeroderma pigmentosum, group C, cell line which replicates SV40 shuttle vectors.
Mutat. Res. 183:185-196(1987)

PubMed=1660831; DOI=10.1016/0378-1119(91)90328-9
Peterson C.A., Legerski R.J.
High-frequency transformation of human repair-deficient cell lines by an Epstein-Barr virus-based cDNA expression vector.
Gene 107:279-284(1991)

PubMed=8298653; DOI=10.1038/ng1293-413
Li L., Bales E.S., Peterson C.A., Legerski R.J.
Characterization of molecular defects in xeroderma pigmentosum group C.
Nat. Genet. 5:413-417(1993)

PubMed=9012405; PMCID=PMC1712398
Weeda G., Eveno E., Donker I., Vermeulen W., Chevallier-Lagente O., Taieb A., Stary A., Hoeijmakers J.H.J., Mezzina M., Sarasin A.
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
Am. J. Hum. Genet. 60:320-329(1997)

Cross-references
Cell line collections (Providers) JCRB; KURB1064
Encyclopedic resources Wikidata; Q54994957
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12