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

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

doi:10.1016/j.scr.2017.08.009

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

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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Abstract

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 language	English
Journal	Stem Cell Research
Volume	24
Pages (from-to)	29-32
Number of pages	4
ISSN	1873-5061
DOIs	https://doi.org/10.1016/j.scr.2017.08.009
Publication status	Published - Oct 2017
Externally published	Yes

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

abstract = "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.",

author = "Cristina Mora and Marialaura Serzanti and Alessio Giacomelli and Valentina Turco and Eleonora Marchina and Valeria Bertini and Giovanna Piovani and Giulia Savio and Lena Refsgaard and Olesen, {Morten Salling} and Venusia Cortellini and Patrizia Dell'Era",

year = "2017",

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doi = "10.1016/j.scr.2017.08.009",

language = "English",

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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

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

SN - 1873-5061

VL - 24

SP - 29

EP - 32

JO - Stem Cell Research

JF - Stem Cell Research

ER -

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

Abstract

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