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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt


  • Cristina Mora
  • Marialaura Serzanti
  • Alessio Giacomelli
  • Silvia Beltramone
  • Eleonora Marchina
  • Valeria Bertini
  • Giovanna Piovani
  • Lena Refsgaard
  • Olesen, Morten Steen Salling
  • Venusia Cortellini
  • Patrizia Dell'Era

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.

TidsskriftStem Cell Research
Sider (fra-til)8-11
Antal sider4
StatusUdgivet - okt. 2017
Eksternt udgivetJa

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