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Cellosaurus GM04079 (CVCL_T821)

[Text version]
Cell line name GM04079
Accession CVCL_T821
Resource Identification Initiative To cite this cell line use: GM04079 (RRID:CVCL_T821)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Caution: Indicated by Coriell to have 420 and 541 GAA repeats.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[341]; ClinVar=VCV000561195; Zygosity=Heterozygous (from autologous cell line GM04078).
  • Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[480]; ClinVar=VCV000561195; Zygosity=Heterozygous (from autologous cell line GM04078).
Disease Friedreich ataxia (NCIt: C84718)
Friedreich ataxia (ORDO: Orphanet_95)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_T820 ! GM04078
Sex of cell Male
Age at sampling 30Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

Cross-references
Cell line collections (Providers) Coriell; GM04079
Cell line databases/resources CLO; CLO_0016225
Encyclopedic resources Wikidata; Q54838383
Entry history
Entry creation03-Feb-2014
Last entry update30-Jan-2024
Version number17