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

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

doi:10.1016/j.scr.2017.08.007

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

Cristina Mora, Marialaura Serzanti, Alessio Giacomelli, Silvia Beltramone, Eleonora Marchina, Valeria Bertini, Giovanna Piovani, 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 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.

Originalsprog	Engelsk
Tidsskrift	Stem Cell Research
Vol/bind	24
Sider (fra-til)	8-11
Antal sider	4
ISSN	1873-5061
DOI	https://doi.org/10.1016/j.scr.2017.08.007
Status	Udgivet - okt. 2017
Udgivet eksternt	Ja

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10.1016/j.scr.2017.08.007

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

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

year = "2017",

month = oct,

doi = "10.1016/j.scr.2017.08.007",

language = "English",

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TY - JOUR

T1 - Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation

AU - Mora, Cristina

AU - Serzanti, Marialaura

AU - Giacomelli, Alessio

AU - Beltramone, Silvia

AU - Marchina, Eleonora

AU - Bertini, Valeria

AU - Piovani, Giovanna

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 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.

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 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.

U2 - 10.1016/j.scr.2017.08.007

DO - 10.1016/j.scr.2017.08.007

M3 - Journal article

C2 - 29034898

SN - 1873-5061

VL - 24

SP - 8

EP - 11

JO - Stem Cell Research

JF - Stem Cell Research

ER -

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

Abstract

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