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Cellosaurus GM22129 (CVCL_BU13)

[Text version]
Cell line name GM22129
Accession CVCL_BU13
Resource Identification Initiative To cite this cell line use: GM22129 (RRID:CVCL_BU13)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11577; TAFAZZIN; Simple; c.109+5G>A (IVS1+5G>A); ClinVar=VCV001073013; Zygosity=Hemizygous; Note=Splicing mutation (Coriell=GM22129).
Disease Barth syndrome (NCIt: C84585)
Barth syndrome (ORDO: Orphanet_111)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 11Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM22129
Encyclopedic resources Wikidata; Q54852366
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number14