Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation
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 molecu...
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Elsevier
2017-10-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506117301642 |
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doaj-bb39b3bfa901468e8107d6a5fb2e19062020-11-25T01:09:25ZengElsevierStem Cell Research1873-50611876-77532017-10-0124C81110.1016/j.scr.2017.08.007Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutationCristina Mora0Marialaura Serzanti1Alessio Giacomelli2Silvia Beltramone3Eleonora Marchina4Valeria Bertini5Giovanna Piovani6Lena Refsgaard7Morten Salling Olesen8Venusia Cortellini9Patrizia Dell'Era10Cellular Fate Reprogramming Unit, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, ItalyCellular Fate Reprogramming Unit, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, ItalyCellular Fate Reprogramming Unit, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, ItalyDepartment of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, ItalyDepartment of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, ItalyDepartment of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, ItalyDepartment of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, ItalyThe Heart Centre, Rigshospitalet, Laboratory for Molecular Cardiology, Copenhagen, DenmarkThe Heart Centre, Rigshospitalet, Laboratory for Molecular Cardiology, Copenhagen, DenmarkDepartment of Medical and Surgical Specialties, Radiological Sciences and Public Health, Forensic Medicine Unit, University of Brescia, Brescia, ItalyCellular Fate Reprogramming Unit, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, ItalyAtrial 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.http://www.sciencedirect.com/science/article/pii/S1873506117301642 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Cristina Mora Marialaura Serzanti Alessio Giacomelli Silvia Beltramone Eleonora Marchina Valeria Bertini Giovanna Piovani Lena Refsgaard Morten Salling Olesen Venusia Cortellini Patrizia Dell'Era |
| spellingShingle |
Cristina Mora Marialaura Serzanti Alessio Giacomelli Silvia Beltramone Eleonora Marchina Valeria Bertini Giovanna Piovani Lena Refsgaard Morten Salling Olesen Venusia Cortellini Patrizia Dell'Era Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation Stem Cell Research |
| author_facet |
Cristina Mora Marialaura Serzanti Alessio Giacomelli Silvia Beltramone Eleonora Marchina Valeria Bertini Giovanna Piovani Lena Refsgaard Morten Salling Olesen Venusia Cortellini Patrizia Dell'Era |
| author_sort |
Cristina Mora |
| title |
Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation |
| title_short |
Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation |
| title_full |
Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation |
| title_fullStr |
Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation |
| title_full_unstemmed |
Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation |
| title_sort |
generation of induced pluripotent stem cells (ipsc) from an atrial fibrillation patient carrying a pitx2 p.m200v mutation |
| publisher |
Elsevier |
| series |
Stem Cell Research |
| issn |
1873-5061 1876-7753 |
| publishDate |
2017-10-01 |
| description |
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. |
| url |
http://www.sciencedirect.com/science/article/pii/S1873506117301642 |
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