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Cellosaurus XP51RO-hTERT (CVCL_ZP56)

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Cell line name XP51RO-hTERT
Accession CVCL_ZP56
Resource Identification Initiative To cite this cell line use: XP51RO-hTERT (RRID:CVCL_ZP56)
Comments Population: Afghan.
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.Arg153Pro (c.458G>C); ClinVar=VCV000016581; Zygosity=Homozygous (from parent cell line).
Disease XFE progeroid syndrome (NCIt: C173111)
Genetic progeroid syndrome (ORDO: Orphanet_363245)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZP55 (XP51RO)
Sex of cell Male
Age at sampling 15Y
Category Telomerase immortalized cell line
Publications

PubMed=14690602; DOI=10.1016/S1097-2765(03)00478-7
Xu-Dong Zhu, Laura J. Niedernhofer, Bernhard Kuster, Matthias Mann, Jan Hendrik Jozef Hoeijmakers, Titia de Lange;
ERCC1/XPF removes the 3' overhang from uncapped telomeres and represses formation of telomeric DNA-containing double minute chromosomes.
Mol. Cell 12:1489-1498(2003)

Cross-references
Encyclopedic resources Wikidata; Q98135910
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8