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Cellosaurus AT2KY TERT (CVCL_L457)

[Text version]
Cell line name AT2KY TERT
Synonyms AT2KY/TERT
Accession CVCL_L457
Resource Identification Initiative To cite this cell line use: AT2KY TERT (RRID:CVCL_L457)
Comments Population: Japanese.
Transfected with: HGNC; 11730; TERT.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 795; ATM; Simple; p.Lys1550Argfs*13 (c.4649delA); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 795; ATM; Simple; p.Ile2629Serfs*24 (c.7881_7885TATTA[1]) (c.7883_7887delTTATA); ClinVar=VCV000230200; Zygosity=Heterozygous (from parent cell line).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_2861 (AT2KY)
Sex of cell Female
Age at sampling 4Y
Category Telomerase immortalized cell line
Publications

PubMed=14570874; DOI=10.1074/jbc.M309457200
Naka K., Tachibana A., Ikeda K., Motoyama N.
Stress-induced premature senescence in hTERT-expressing ataxia telangiectasia fibroblasts.
J. Biol. Chem. 279:2030-2037(2004)

Cross-references
Cell line collections (Providers) JCRB; KURB1779
Encyclopedic resources Wikidata; Q54750906
Entry history
Entry creation06-May-2013
Last entry update29-Jun-2023
Version number15