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Cellosaurus GM28026 (CVCL_A5MF)

[Text version]
Cell line name GM28026
Accession CVCL_A5MF
Resource Identification Initiative To cite this cell line use: GM28026 (RRID:CVCL_A5MF)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6408; MAFB; Simple; p.Pro71Arg (c.212C>G); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28026).
Disease Multicentric carpotarsal osteolysis syndrome (NCIt: C178416)
Multicentric carpo-tarsal osteolysis with or without nephropathy (ORDO: Orphanet_2774)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28026
Encyclopedic resources Wikidata; Q107115201
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6