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Cellosaurus 2BNhTERT (CVCL_8089)

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Cell line name 2BNhTERT
Synonyms 2BN hTERT; 2BNhT
Accession CVCL_8089
Resource Identification Initiative To cite this cell line use: 2BNhTERT (RRID:CVCL_8089)
Comments Genetic integration: Method=Transfection/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:25737; NHEJ1; Simple; p.Glu5Glyfs*43 (c.11dupT) (ins11T); ClinVar=VCV000000985; Zygosity=Homozygous (from parent cell line).
Disease Severe combined immunodeficiency due to NHEJ1 deficiency (NCIt: C162695)
Cernunnos-XLF deficiency (ORDO: Orphanet_169079)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_8087 (2BN)
Sex of cell Female
Age at sampling Age unspecified
Category Telomerase immortalized cell line
Publications

PubMed=12604777; DOI=10.1073/pnas.0437964100; PMCID=PMC151363
Yan Dai, Boris Kysela, Les A. Hanakahi, Kostas Manolis, Enriqueta Riballo, Markus Stumm, Terry Odell Harville, Stephen Craig West, Marjorie Ann Oettinger, Penelope Ann Jeggo;
Nonhomologous end joining and V(D)J recombination require an additional factor.
Proc. Natl. Acad. Sci. U.S.A. 100:2462-2467(2003)

PubMed=19056826; DOI=10.1093/nar/gkn957; PMCID=PMC2632933
Enriqueta Riballo, Lisa Woodbine, Thomas Stiff, Sarah A. Walker, Aaron A. Goodarzi, Penelope Ann Jeggo;
XLF-Cernunnos promotes DNA ligase IV-XRCC4 re-adenylation following ligation.
Nucleic Acids Res. 37:482-492(2009)

Cross-references
Anatomy/cell type resources BTO; BTO_0004323
Encyclopedic resources Wikidata; Q54584319
Entry history
Entry creation04-Apr-2012
Last entry update14-Aug-2025
Version number17