ID   GM07166VA7
AC   CVCL_WL44
SY   GM07166SV
DR   EFO; EFO_0022347
DR   Wikidata; Q93794124
RX   CelloPub=CLPUB00505;
RX   PubMed=12419185;
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   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Caution: Could be identical to GM15989 (Cellosaurus=CVCL_F626).
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_7464 ! GM07166
SX   Female
AG   20Y
CA   Transformed cell line
DT   Created: 24-05-19; Last updated: 10-09-24; Version: 10
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RX   CelloPub=CLPUB00505;
RA   Komatsu K., Weemaes C.M.R., Smeets D.F.C.M., Oshimura M., Okumura Y.;
RT   "Establishment of cell line derived from the patient with Nijmegen
RT   breakage syndrome and the genetic complementation with ataxia
RT   telangiectasia disease.";
RL   J. Radiat. Res. 34:320-320(1993).
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RX   PubMed=12419185; DOI=10.1016/S0960-9822(02)01259-9;
RA   Kobayashi J., Tauchi H., Sakamoto S., Nakamura A., Morishima K.-i.,
RA   Matsuura S., Kobayashi T., Tamai K., Tanimoto K., Komatsu K.;
RT   "NBS1 localizes to gamma-H2AX foci through interaction with the
RT   FHA/BRCT domain.";
RL   Curr. Biol. 12:1846-1851(2002).
//
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).
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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).
//