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