Cellosaurus logo
expasy logo

Cellosaurus GM22164 (CVCL_BU22)

[Text version]
Cell line name GM22164
Accession CVCL_BU22
Resource Identification Initiative To cite this cell line use: GM22164 (RRID:CVCL_BU22)
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; p.Gln233Ter (c.697C>T); ClinVar=VCV000662186; Zygosity=Hemizygous (Coriell=GM22164).
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 7Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM22164
Encyclopedic resources Wikidata; Q54852385
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12