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Cellosaurus GM16227 (CVCL_U746)

[Text version]
Cell line name GM16227
Accession CVCL_U746
Resource Identification Initiative To cite this cell line use: GM16227 (RRID:CVCL_U746)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[630]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM16227).
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[830]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM16227).
Disease Friedreich ataxia (NCIt: C84718)
Friedreich ataxia (ORDO: Orphanet_95)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 25Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM16227
Cell line databases/resources CLO; CLO_0019287
Encyclopedic resources Wikidata; Q54848387
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number15