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Cellosaurus GM21284 (CVCL_EF99)

[Text version]
Cell line name GM21284
Accession CVCL_EF99
Resource Identification Initiative To cite this cell line use: GM21284 (RRID:CVCL_EF99)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1149; BUB1B; Simple; p.Ser738Valfs*16 (c.2208_2211dupGTTA) (2212insGTTA); ClinVar=VCV000006763; Zygosity=Heterozygous (Coriell=GM21284).
  • Mutation; HGNC; HGNC:1149; BUB1B; Simple; p.Arg814His (c.2441G>A); ClinVar=VCV000006764; Zygosity=Heterozygous (Coriell=GM21284).
Disease Mosaic variegated aneuploidy syndrome 1 (NCIt: C128192)
Mosaic variegated aneuploidy syndrome (ORDO: Orphanet_1052)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM21284
Encyclopedic resources Wikidata; Q54851759
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12