Stem Cell Research
Stem Cell Research
5 years ago

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation.

Venusia Cortellini, Giovanna Piovani, Morten Salling Olesen, Marialaura Serzanti, Eleonora Marchina, Silvia Beltramone, Patrizia Dell'Era, Alessio Giacomelli, 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 specific PITX2 gene have been identified in patients with early-onset AF. To investigate the molecular mechanisms underlying AF, we reprogrammed to pluripotency polymorphonucleated leukocytes isolated from the blood of a patient carrying a PITX2 p.M200V mutation, using a commercially available non-integrating expression 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 PITX2 p.M200V mutation.

Publisher URL: http://doi.org/10.1016/j.scr.2017.08.007

DOI: 10.1016/j.scr.2017.08.007

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