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Cellosaurus GM16197 (CVCL_U735)

[Text version]
Cell line name GM16197
Accession CVCL_U735
Resource Identification Initiative To cite this cell line use: GM16197 (RRID:CVCL_U735)
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[760]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM16197).
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[830]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM16197).
Disease Friedreich ataxia (NCIt: C84718)
Friedreich ataxia (ORDO: Orphanet_95)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 14Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM16197
Cell line databases/resources CLO; CLO_0019363
Encyclopedic resources Wikidata; Q54848355
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number15