Cellosaurus logo
expasy logo

Cellosaurus GM15789 (CVCL_0Q31)

[Text version]
Cell line name GM15789
Accession CVCL_0Q31
Resource Identification Initiative To cite this cell line use: GM15789 (RRID:CVCL_0Q31)
Comments Population: Caucasian; Czechoslovakian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (Coriell=GM15789).
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
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM15789 - Discontinued
Encyclopedic resources Wikidata; Q54848201
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number12