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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation

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  • Cristina Mora
  • Marialaura Serzanti
  • Alessio Giacomelli
  • Valentina Turco
  • Eleonora Marchina
  • Valeria Bertini
  • Giovanna Piovani
  • Giulia Savio
  • Lena Refsgaard
  • Morten Salling Olesen
  • Venusia Cortellini
  • Patrizia Dell'Era
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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 atrial specific KCNA5 gene have been identified in patients with early-onset lone AF. To investigate the molecular mechanisms underlying AF, we reprogrammed to pluripotency polymorphonucleated leukocytes isolated from the blood of a patient carrying a KCNA5 p.D322H mutation, using a commercially available non-integrating 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 p.D322H mutation.

Original languageEnglish
JournalStem Cell Research
Volume24
Pages (from-to)29-32
Number of pages4
ISSN1873-5061
DOIs
Publication statusPublished - Oct 2017

    Research areas

  • Journal Article

ID: 52050456