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Cellosaurus XPCS2VI (CVCL_XG02)

[Text version]
Cell line name XPCS2VI
Synonyms XP-CS2VI; Xeroderma Pigmentosum/Cockayne Syndrome 2 VIllejuif
Accession CVCL_XG02
Resource Identification Initiative To cite this cell line use: XPCS2VI (RRID:CVCL_XG02)
Comments 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 autologous cell lines XP-CS2; XP-CS2 LCL).
Disease Xeroderma pigmentosum, complementation group D (NCIt: C3967)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_XG03 (XPCS2VILas)
Originate from same individual CVCL_L455 ! XP-CS2
CVCL_L456 ! XP-CS2 LCL
Sex of cell Male
Age at sampling >5Y
Category Finite 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; Q98136299
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number11