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Cellosaurus XP12ROB4 (CVCL_VP52)

[Text version]
Cell line name XP12ROB4
Accession CVCL_VP52
Resource Identification Initiative To cite this cell line use: XP12ROB4 (RRID:CVCL_VP52)
Comments Population: Palestinian.
Characteristics: Combines defects in three DNA repair functions: MGMT, MMR and NER. Does not express MSH2.
Transformant: ChEBI; CHEBI_50102; N-methyl-N-nitrosourea (NMU).
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12814; XPA; Simple; p.Arg207Ter (c.619C>T); ClinVar=VCV000000996; Zygosity=Homozygous (from parent cell line).
Disease Xeroderma pigmentosum, complementation group A (NCIt: C3965)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_VP50 (XP12RO)
Sex of cell Male
Age at sampling 12Y
Category Transformed cell line
Publications

PubMed=10334196; DOI=10.1093/carcin/20.5.799
O'Driscoll M., Martinelli S., Ciotta C., Karran P.
Combined mismatch and nucleotide excision repair defects in a human cell line: mismatch repair processes methylation but not UV- or ionizing radiation-induced DNA damage.
Carcinogenesis 20:799-804(1999)

Cross-references
Encyclopedic resources Wikidata; Q98135285
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number9