3 years ago

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation.

Giulia Savio, Venusia Cortellini, Giovanna Piovani, Morten Salling Olesen, Marialaura Serzanti, Eleonora Marchina, Patrizia Dell'Era, Alessio Giacomelli, Valentina Turco, Lena Refsgaard, Valeria Bertini, Cristina Mora
Atrial fibrillation (AF) is the most common sustained arrhythmia associated with several cardiac risk factors, but increasing evidences indicated a genetic component. Indeed, genetic variations of the atrial specific KCNA5 gene have been identified in patients with early-onset lone AF. To investigate the molecular mechanisms underlying AF, we reprogrammed to pluripotency polymorphonucleated leukocytes isolated from the blood of a patient carrying a KCNA5 p.D322H mutation, using a commercially available non-integrating system. The generated iPSCs expressed pluripotency markers and differentiated toward cells belonging to the three embryonic germ layers. Moreover, the cells showed a normal karyotype and retained the p.D322H mutation.

Publisher URL: http://doi.org/10.1016/j.scr.2017.08.009

DOI: 10.1016/j.scr.2017.08.009

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