ID   W1799
AC   CVCL_VL05
DR   Wikidata; Q98134676
RX   PubMed=9590181;
RX   PubMed=12446774;
CC   Sequence variation: Mutation; HGNC; 7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (Coriell=GM16143).
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)
CA   Finite cell line
DT   Created: 07-09-18; Last updated: 30-01-24; Version: 9
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RX   PubMed=9590181; DOI=10.1016/S0092-8674(00)81175-7;
RA   Carney J.P., Maser R.S., Olivares H., Davis E.M., Le Beau M.M.,
RA   Yates J.R. III, Hays L., Morgan W.F., Petrini J.H.J.;
RT   "The hMre11/hRad50 protein complex and Nijmegen breakage syndrome:
RT   linkage of double-strand break repair to the cellular DNA damage
RT   response.";
RL   Cell 93:477-486(1998).
//
RX   PubMed=12446774; DOI=10.1128/mcb.22.24.8552-8561.2002;
RA   Heffernan T.P., Simpson D.A., Frank A.R., Heinloth A.N., Paules R.S.,
RA   Cordeiro-Stone M., Kaufmann W.K.;
RT   "An ATR- and Chk1-dependent S checkpoint inhibits replicon initiation
RT   following UVC-induced DNA damage.";
RL   Mol. Cell. Biol. 22:8552-8561(2002).
//