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Cellosaurus XPCS2VILas (CVCL_XG03)

[Text version]
Cell line name XPCS2VILas
Synonyms XP-CS2VILas
Accession CVCL_XG03
Resource Identification Initiative To cite this cell line use: XPCS2VILas (RRID:CVCL_XG03)
Comments Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pLASwt).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Gly602Asp (c.1805G>A); ClinVar=VCV002138306; Zygosity=Heterozygous (from parent cell line).
Disease Xeroderma pigmentosum, complementation group D (NCIt: C3967)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_XG02 (XPCS2VI)
Sex of cell Male
Age at sampling >5Y
Category Transformed cell line
Publications

PubMed=8055625; DOI=10.1093/carcin/15.8.1493
Mezzina M., Eveno E., Chevallier-Lagente O., Benoit A., Carreau M., Vermeulen W., Hoeijmakers J.H.J., Stefanini M., Lehmann A.R., Weber C.A., Sarasin A.
Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.
Carcinogenesis 15:1493-1498(1994)

Cross-references
Encyclopedic resources Wikidata; Q98136301
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number12