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Cellosaurus GM15814 (CVCL_U633)

[Text version]
Cell line name GM15814
Accession CVCL_U633
Resource Identification Initiative To cite this cell line use: GM15814 (RRID:CVCL_U633)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (Coriell=GM15814).
Disease Nijmegen breakage syndrome (NCIt: C4692)
Nijmegen breakage syndrome (ORDO: Orphanet_647)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 12Y
Category Transformed cell line
Publications

PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198
Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L., Notaro R., Luzzatto L.
A quantitative measurement of the human somatic mutation rate.
Cancer Res. 65:8111-8117(2005)

Cross-references
Cell line collections (Providers) Coriell; GM15814
Cell line databases/resources CLO; CLO_0027741
Encyclopedic resources Wikidata; Q54848212
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number17