Cellosaurus logo
expasy logo

Cellosaurus XP42RO-hTERT (CVCL_ZP58)

[Text][XML][JSON]
Cell line name XP42RO-hTERT
Accession CVCL_ZP58
Resource Identification Initiative To cite this cell line use: XP42RO-hTERT (RRID:CVCL_ZP58)
Comments Population: Caucasian.
Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg799Trp (c.2395C>T) (R788W); ClinVar=VCV000016580; Zygosity=Homozygous (from parent cell line).
Disease Xeroderma pigmentosum, complementation group F (NCIt: C3968)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZP20 (XP42RO)
Sex of cell Male
Age at sampling 62Y
Category Telomerase immortalized cell line
Publications

PubMed=30165384; DOI=10.1093/nar/gky774; PMCID=PMC6182131
Mariangela Sabatella, Arjan F. Theil, Cristina Ribeiro-Silva, Jana Slyskova, Karen Thijssen, Chantal Voskamp, Hannes Lans, Wim Vermeulen;
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Nucleic Acids Res. 46:9563-9577(2018)

Cross-references
Encyclopedic resources Wikidata; Q98135818
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8