Cellosaurus logo
expasy logo

Cellosaurus GM22382 (CVCL_BU53)

[Text version]
Cell line name GM22382
Accession CVCL_BU53
Resource Identification Initiative To cite this cell line use: GM22382 (RRID:CVCL_BU53)
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.Phe128Ser (c.383T>C); ClinVar=VCV000042259; Zygosity=Hemizygous (Coriell=GM22382).
Disease Barth syndrome (NCIt: C84585)
Restrictive cardiomyopathy (NCIt: C62798)
Barth syndrome (ORDO: Orphanet_111)
Restrictive cardiomyopathy (ORDO: Orphanet_217632)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 8Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM22382
Encyclopedic resources Wikidata; Q54852550
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13