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

• Main Authors: Cristina Mora, Marialaura Serzanti, Alessio Giacomelli, Silvia Beltramone, Eleonora Marchina, Valeria Bertini, Giovanna Piovani, Lena Refsgaard, Morten Salling Olesen, Venusia Cortellini, Patrizia Dell'Era
• Format: Article
• Language: English
• Published: Elsevier 2017-10-01
• Series: Stem Cell Research
• Online Access: http://www.sciencedirect.com/science/article/pii/S1873506117301642
• ISSN: 1873-5061; 1876-7753

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.