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


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. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Mora C, Serzanti M, Giacomelli A, Beltramone S, Marchina E, Bertini V, Piovani G, Refsgaard L, Olesen MS, Cortellini V, Dell'Era P
Journal Stem cell research
Publication Date 2017 Oct;24:8-11
PubMed 29034898
DOI 10.1016/j.scr.2017.08.007

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