Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Gain-of-function mutation in the voltage-gated potassium channel gene KCNQ1 and glucose-stimulated hypoinsulinemia - case report

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Loss-of-Function Variants in Cytoskeletal Genes Are Associated with Early-Onset Atrial Fibrillation

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • 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
Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftStem Cell Research
Vol/bind24
Sider (fra-til)29-32
Antal sider4
ISSN1873-5061
DOI
StatusUdgivet - okt. 2017

ID: 52050456