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Cellosaurus GM15850 (CVCL_U734)

[Text version]
Cell line name GM15850
Accession CVCL_U734
Resource Identification Initiative To cite this cell line use: GM15850 (RRID:CVCL_U734)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Transcriptomics; Microarray.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[650]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM15850).
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1030]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM15850).
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 13Y
Category Transformed cell line
Publications

PubMed=18485778; DOI=10.1016/j.ymgme.2008.03.019; PMCID=PMC2692602
Willis J.H., Isaya G., Gakh O., Capaldi R.A., Marusich M.F.
Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers.
Mol. Genet. Metab. 94:491-497(2008)

Cross-references
Cell line collections (Providers) Coriell; GM15850
Cell line databases/resources CLO; CLO_0027780
Chemistry resources ChEMBL-Cells; CHEMBL4295474
ChEMBL-Targets; CHEMBL4296416
PubChem_Cell_line; CVCL_U734
Encyclopedic resources Wikidata; Q54848235
Experimental variables resources EFO; EFO_0006276
Gene expression databases GEO; GSM113813
GEO; GSM113814
GEO; GSM113815
GEO; GSM113816
GEO; GSM113817
GEO; GSM113818
GEO; GSM113819
GEO; GSM113820
GEO; GSM113821
GEO; GSM113822
GEO; GSM113823
GEO; GSM113824
Entry history
Entry creation16-Apr-2014
Last entry update10-Apr-2025
Version number20