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Cellosaurus GM07166VA7 (CVCL_WL44)

[Text version]
Cell line name GM07166VA7
Synonyms GM07166SV
Accession CVCL_WL44
Resource Identification Initiative To cite this cell line use: GM07166VA7 (RRID:CVCL_WL44)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Caution: Could be identical to GM15989 (Cellosaurus=CVCL_F626).
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_7464 (GM07166)
Children:
CVCL_ZW03 (GM07166VA7-NBS1)
Sex of cell Female
Age at sampling 20Y
Category Transformed cell line
Publications

CLPUB00505
Komatsu K., Weemaes C.M.R., Smeets D.F.C.M., Oshimura M., Okumura Y.
Establishment of cell line derived from the patient with Nijmegen breakage syndrome and the genetic complementation with ataxia telangiectasia disease.
J. Radiat. Res. 34:320-320(1993)

PubMed=12419185; DOI=10.1016/S0960-9822(02)01259-9
Kobayashi J., Tauchi H., Sakamoto S., Nakamura A., Morishima K.-i., Matsuura S., Kobayashi T., Tamai K., Tanimoto K., Komatsu K.
NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain.
Curr. Biol. 12:1846-1851(2002)

PubMed=24830725; DOI=10.1158/0008-5472.CAN-13-3037
Yamamoto Y., Miyamoto M., Tatsuda D., Kubo M., Nakagama H., Nakamura Y., Satoh H., Matsuda K., Watanabe T., Ohta T.
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
Yamasaki H., Miyamoto M., Yamamoto Y., Kondo T., Watanabe T., Ohta T.
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; Q93794124
Experimental variables resources EFO; EFO_0022347
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number11