Dear Friedreich's Ataxia Community - PTC Therapeutics
We are excited to share that we will be initiating a new clinical trial for vatiquinone for the treatment of individuals living with Friedreich's ...
Saturday, May 30, 2026
Generation of Friedreich's ataxia induced pluripotent stem cells carrying the FXN c.165 + 5G>C splicing mutation.
Yameogo P, Gerhart BJ, Sentmanat MF, Neilson A, Cui X, Verma M, Lynch DR, Napierala JS, Napierala M. Generation of Friedreich's ataxia induced pluripotent stem cells carrying the FXN c.165 + 5G>C splicing mutation. Stem Cell Res. 2026 Jun;93:103966. doi: 10.1016/j.scr.2026.103966. Epub 2026 Mar 16. PMID: 41865460.
We generated induced pluripotent stem cells from blood lymphocytes from a FRDA patient carrying the FXN c.165 + 5G > C point mutation, which interferes with canonical splicing of intron 1 of the FXN gene. These cells allow for development of therapeutic approaches that target splicing defect in FRDA.
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