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Cellosaurus 2BNhTERT (CVCL_8089)

[Text version]
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 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; 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
Category Telomerase immortalized cell line
Publications

PubMed=12604777; DOI=10.1073/pnas.0437964100
Dai Y., Kysela B., Hanakahi L.A., Manolis K., Riballo E., Stumm M., Harville T.O., West S.C., Oettinger M.A., Jeggo P.A.
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
Riballo E., Woodbine L., Stiff T., Walker S.A., Goodarzi A.A., Jeggo P.A.
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 update29-Jun-2023
Version number14