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Cellosaurus NBS-ILB1 (CVCL_XF97)

[Text version]

Cell line name NBS-ILB1
Synonyms NBSILB1; ILB1
Accession CVCL_XF97
Resource Identification Initiative To cite this cell line use: NBS-ILB1 (RRID:CVCL_XF97)
Comments Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) [pSVori-].
Sequence variations
  • Mutation; HGNC; 7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (PubMed=10377945).
Disease Nijmegen breakage syndrome (NCIt: C4692)
Nijmegen breakage syndrome (ORDO: Orphanet_647)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex unspecified
Age at sampling 5Y
Category Transformed cell line
Publications

PubMed=10377945; DOI=10.1016/s0921-8777(99)00009-9
Kraakman-van der Zwet M., Overkamp W.J.I., Friedl A.A., Klein B., Verhaegh G.W.C.T., Jaspers N.G.J., Midro A.T., Eckardt-Schupp F., Lohman P.H.M., Zdzienicka M.Z.
Immortalization and characterization of Nijmegen breakage syndrome fibroblasts.
Mutat. Res. 434:17-27(1999)

PubMed=11238951; DOI=10.1128/MCB.21.6.2184-2191.2001
Desai-Mehta A., Cerosaletti K.M., Concannon P.
Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization.
Mol. Cell. Biol. 21:2184-2191(2001)

PubMed=16478990; DOI=10.1128/MCB.26.5.1691-1699.2006
Cerosaletti K., Wright J., Concannon P.
Active role for nibrin in the kinetics of Atm activation.
Mol. Cell. Biol. 26:1691-1699(2006)

Cross-references
Encyclopedic resources Wikidata; Q95992392
Entry history
Entry creation06-Sep-2019
Last entry update16-Dec-2021
Version number6