ID   NBS-ILB1
AC   CVCL_XF97
SY   NBSILB1; ILB1
DR   Wikidata; Q95992392
RX   PubMed=10377945;
RX   PubMed=11238951;
RX   PubMed=16478990;
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; 7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (PubMed=10377945).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) [Note=pSVori-].
CC   Derived from site: In situ; Oral cavity, buccal mucosa; UBERON=UBERON_0006956.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C4692; Nijmegen breakage syndrome
DI   ORDO; Orphanet_647; Nijmegen breakage syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   5Y
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 05-10-23; Version: 9
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RX   PubMed=10377945; DOI=10.1016/s0921-8777(99)00009-9;
RA   Kraakman-van der Zwet M., Overkamp W.J.I., Friedl A.A., Klein B.,
RA   Verhaegh G.W.C.T., Jaspers N.G.J., Midro A.T., Eckardt-Schupp F.,
RA   Lohman P.H.M., Zdzienicka M.Z.;
RT   "Immortalization and characterization of Nijmegen breakage syndrome
RT   fibroblasts.";
RL   Mutat. Res. 434:17-27(1999).
//
RX   PubMed=11238951; DOI=10.1128/mcb.21.6.2184-2191.2001;
RA   Desai-Mehta A., Cerosaletti K.M., Concannon P.;
RT   "Distinct functional domains of nibrin mediate Mre11 binding, focus
RT   formation, and nuclear localization.";
RL   Mol. Cell. Biol. 21:2184-2191(2001).
//
RX   PubMed=16478990; DOI=10.1128/mcb.26.5.1691-1699.2006;
RA   Cerosaletti K.M., Wright J., Concannon P.;
RT   "Active role for nibrin in the kinetics of Atm activation.";
RL   Mol. Cell. Biol. 26:1691-1699(2006).
//