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Cellosaurus XPCS2VILas (CVCL_XG03)

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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
Mauro Mezzina, Eric Eveno, Odile Chevallier-Lagente, Annie Benoit, Madeleine Carreau, Wim Vermeulen, Jan Hendrik Jozef Hoeijmakers, Miria Stefanini, Alan Robert Lehmann, Christine A. Weber, Alain Sarasin;
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