Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation
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Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation. / Mora, Cristina; Serzanti, Marialaura; Giacomelli, Alessio; Turco, Valentina; Marchina, Eleonora; Bertini, Valeria; Piovani, Giovanna; Savio, Giulia; Refsgaard, Lena; Olesen, Morten Salling; Cortellini, Venusia; Dell'Era, Patrizia.
I: Stem Cell Research, Bind 24, 10.2017, s. 29-32.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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T1 - Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation
AU - Mora, Cristina
AU - Serzanti, Marialaura
AU - Giacomelli, Alessio
AU - Turco, Valentina
AU - Marchina, Eleonora
AU - Bertini, Valeria
AU - Piovani, Giovanna
AU - Savio, Giulia
AU - Refsgaard, Lena
AU - Olesen, Morten Salling
AU - Cortellini, Venusia
AU - Dell'Era, Patrizia
N1 - Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.
PY - 2017/10
Y1 - 2017/10
N2 - 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.
AB - 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.
U2 - 10.1016/j.scr.2017.08.009
DO - 10.1016/j.scr.2017.08.009
M3 - Journal article
C2 - 29034891
VL - 24
SP - 29
EP - 32
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
ER -
ID: 196039259