Cellosaurus cell line NBS-ILB1 (CVCL

Cellosaurus NBS-ILB1 (CVCL_XF97)

Cross-references
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	Population: Caucasian; Polish. Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSVori-). Derived from site: In situ; Oral cavity, buccal mucosa; UBERON=UBERON_0006956. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; 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 Maria Kraakman-van der Zwet, Wilhelmina J.I. Overkamp, Anna A. Friedl, Bernard Klein, Gerald W.C.T. Verhaegh, Nicolaas G.J. Jaspers, Alina T. Midro, Friederike Eckardt-Schupp, Paul H.M. Lohman, Malgorzata Zofia Zdzienicka; 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; PMCID=PMC86852 Ami Desai-Mehta, Karen M. Cerosaletti, Patrick Concannon; 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; PMCID=PMC1430256 Karen M. Cerosaletti, Jocyndra Wright, Patrick Concannon; Active role for nibrin in the kinetics of Atm activation. Mol. Cell. Biol. 26:1691-1699(2006)
Encyclopedic resources	Wikidata; Q95992392
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	11