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Cellosaurus GM07166VA7-NBS1 (CVCL_ZW03)

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Cell line name GM07166VA7-NBS1
Accession CVCL_ZW03
Resource Identification Initiative To cite this cell line use: GM07166VA7-NBS1 (RRID:CVCL_ZW03)
Comments Population: Caucasian.
Genetic integration: Method=Transfection/transduction; Gene=HGNC; HGNC:7652; NBN.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (from parent cell line).
Disease Nijmegen breakage syndrome (NCIt: C4692)
Nijmegen breakage syndrome (ORDO: Orphanet_647)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_WL44 (GM07166VA7)
Sex of cell Female
Age at sampling 20Y
Category Transformed cell line
Publications

PubMed=24830725; DOI=10.1158/0008-5472.CAN-13-3037
Yuki Yamamoto, Mamiko Miyamoto, Daisuke Tatsuda, Michiaki Kubo, Hitoshi Nakagama, Yusuke Nakamura, Hitoshi Satoh, Koichi Matsuda, Toshiki Watanabe, Tsutomu Ohta;
A rare polymorphic variant of NBS1 reduces DNA repair activity and elevates chromosomal instability.
Cancer Res. 74:3707-3715(2014)

PubMed=27353471; DOI=10.1111/gtc.12387
Hiroyuki Yamasaki, Mamiko Miyamoto, Yuki Yamamoto, Tadashi Kondo, Toshiki Watanabe, Tsutomu Ohta;
Synovial sarcoma cell lines showed reduced DNA repair activity and sensitivity to a PARP inhibitor.
Genes Cells 21:852-860(2016)

Cross-references
Encyclopedic resources Wikidata; Q102113885
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number9