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Cellosaurus USFi001-A (CVCL_A6XD)

[Text version]
Cell line name USFi001-A
Synonyms 1CN1.5
Accession CVCL_A6XD
Resource Identification Initiative To cite this cell line use: USFi001-A (RRID:CVCL_A6XD)
Comments From: University of South Florida; Tampa; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[781]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=34034220).
  • Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[1092]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=34034220).
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 34Y
Category Induced pluripotent stem cell
Publications

PubMed=34034220; DOI=10.1016/j.scr.2021.102399
Burgos Angulo M., Yang J.-J., Argenziano M.A., Bertalovitz A.C., Beidokhti M.N., McDonald T.V.
Generation of a Friedreich's ataxia patient-derived iPSC line USFi001-A.
Stem Cell Res. 54:102399-102399(2021)

Cross-references
Cell line databases/resources hPSCreg; USFi001-A
Biological sample resources BioSamples; SAMEA8192624
Encyclopedic resources Wikidata; Q107117353
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4