ID   GM07166VA7-NBS1
AC   CVCL_ZW03
DR   Wikidata; Q102113885
RX   PubMed=24830725;
RX   PubMed=27353471;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=HGNC; 7652; NBN.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C4692; Nijmegen breakage syndrome
DI   ORDO; Orphanet_647; Nijmegen breakage syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_WL44 ! GM07166VA7
SX   Female
AG   20Y
CA   Transformed cell line
DT   Created: 29-10-20; Last updated: 10-09-24; Version: 8
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RX   PubMed=24830725; DOI=10.1158/0008-5472.CAN-13-3037;
RA   Yamamoto Y., Miyamoto M., Tatsuda D., Kubo M., Nakagama H.,
RA   Nakamura Y., Satoh H., Matsuda K., Watanabe T., Ohta T.;
RT   "A rare polymorphic variant of NBS1 reduces DNA repair activity and
RT   elevates chromosomal instability.";
RL   Cancer Res. 74:3707-3715(2014).
//
RX   PubMed=27353471; DOI=10.1111/gtc.12387;
RA   Yamasaki H., Miyamoto M., Yamamoto Y., Kondo T., Watanabe T., Ohta T.;
RT   "Synovial sarcoma cell lines showed reduced DNA repair activity and
RT   sensitivity to a PARP inhibitor.";
RL   Genes Cells 21:852-860(2016).
//