Generation of human induced pluripotent stem cell line LUMCi027-A and its isogenic gene-corrected line from a patient affected by arrhythmogenic cardiomyopathy and carrying the c.2013delC PKP2 mutation

Generation of human induced pluripotent stem cell line LUMCi027-A and its isogenic gene-corrected line from a patient affected by arrhythmogenic cardiomyopathy and carrying the c.2013delC PKP2 mutation

Arrhythmogenic Cardiomyopathy (ACM) is a rare inherited heart muscle disease characterised by progressive fibro-fatty replacement of the ventricular myocardium leading to life-threatening arrhythmias. We generated human induced pluripotent stem cells (hiPSCs) from a patient affected by ACM and carry...

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Main Authors: Viviana Meraviglia, Christiaan H. Arendzen, Merve Tok, Christian Freund, Angela Serena Maione, Elena Sommariva, Milena Bellin
Format: Article
Language:English
Published: Elsevier 2020-07-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120301367
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spelling doaj-83bf51a2312947fc89fe29c2685411d12020-11-25T03:01:49ZengElsevierStem Cell Research1873-50612020-07-0146101835Generation of human induced pluripotent stem cell line LUMCi027-A and its isogenic gene-corrected line from a patient affected by arrhythmogenic cardiomyopathy and carrying the c.2013delC PKP2 mutationViviana Meraviglia0Christiaan H. Arendzen1Merve Tok2Christian Freund3Angela Serena Maione4Elena Sommariva5Milena Bellin6Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, The Netherlands; Corresponding authors.Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, The Netherlands; Leiden University Medical Center hiPSC Hotel, Leiden, The NetherlandsLeiden University Medical Center hiPSC Hotel, Leiden, The Netherlands; Department of Cell and Chemical Biology, Leiden University Medical Center, Leiden, The NetherlandsDepartment of Anatomy and Embryology, Leiden University Medical Center, Leiden, The Netherlands; Leiden University Medical Center hiPSC Hotel, Leiden, The NetherlandsVascular Biology and Regenerative Medicine Unit, Centro Cardiologico Monzino IRCCS, Milan, ItalyVascular Biology and Regenerative Medicine Unit, Centro Cardiologico Monzino IRCCS, Milan, ItalyDepartment of Anatomy and Embryology, Leiden University Medical Center, Leiden, The Netherlands; Corresponding authors.Arrhythmogenic Cardiomyopathy (ACM) is a rare inherited heart muscle disease characterised by progressive fibro-fatty replacement of the ventricular myocardium leading to life-threatening arrhythmias. We generated human induced pluripotent stem cells (hiPSCs) from a patient affected by ACM and carrying the heterozygous c.2013delC (p.K672Rfs) PKP2 mutation and then corrected the mutation using CRISPR/Cas9 technology. Both hiPSC lines expressed pluripotency markers, maintained a normal karyotype, and differentiated into derivatives of the three germ layers. This isogenic hiPSC pair represents a genetically controlled system to study the role of the c.2013delC PKP2 mutation in vitro.http://www.sciencedirect.com/science/article/pii/S1873506120301367
collection DOAJ
language English
format Article
sources DOAJ
author Viviana Meraviglia
Christiaan H. Arendzen
Merve Tok
Christian Freund
Angela Serena Maione
Elena Sommariva
Milena Bellin
spellingShingle Viviana Meraviglia
Christiaan H. Arendzen
Merve Tok
Christian Freund
Angela Serena Maione
Elena Sommariva
Milena Bellin
Generation of human induced pluripotent stem cell line LUMCi027-A and its isogenic gene-corrected line from a patient affected by arrhythmogenic cardiomyopathy and carrying the c.2013delC PKP2 mutation
Stem Cell Research
author_facet Viviana Meraviglia
Christiaan H. Arendzen
Merve Tok
Christian Freund
Angela Serena Maione
Elena Sommariva
Milena Bellin
author_sort Viviana Meraviglia
title Generation of human induced pluripotent stem cell line LUMCi027-A and its isogenic gene-corrected line from a patient affected by arrhythmogenic cardiomyopathy and carrying the c.2013delC PKP2 mutation
title_short Generation of human induced pluripotent stem cell line LUMCi027-A and its isogenic gene-corrected line from a patient affected by arrhythmogenic cardiomyopathy and carrying the c.2013delC PKP2 mutation
title_full Generation of human induced pluripotent stem cell line LUMCi027-A and its isogenic gene-corrected line from a patient affected by arrhythmogenic cardiomyopathy and carrying the c.2013delC PKP2 mutation
title_fullStr Generation of human induced pluripotent stem cell line LUMCi027-A and its isogenic gene-corrected line from a patient affected by arrhythmogenic cardiomyopathy and carrying the c.2013delC PKP2 mutation
title_full_unstemmed Generation of human induced pluripotent stem cell line LUMCi027-A and its isogenic gene-corrected line from a patient affected by arrhythmogenic cardiomyopathy and carrying the c.2013delC PKP2 mutation
title_sort generation of human induced pluripotent stem cell line lumci027-a and its isogenic gene-corrected line from a patient affected by arrhythmogenic cardiomyopathy and carrying the c.2013delc pkp2 mutation
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2020-07-01
description Arrhythmogenic Cardiomyopathy (ACM) is a rare inherited heart muscle disease characterised by progressive fibro-fatty replacement of the ventricular myocardium leading to life-threatening arrhythmias. We generated human induced pluripotent stem cells (hiPSCs) from a patient affected by ACM and carrying the heterozygous c.2013delC (p.K672Rfs) PKP2 mutation and then corrected the mutation using CRISPR/Cas9 technology. Both hiPSC lines expressed pluripotency markers, maintained a normal karyotype, and differentiated into derivatives of the three germ layers. This isogenic hiPSC pair represents a genetically controlled system to study the role of the c.2013delC PKP2 mutation in vitro.
url http://www.sciencedirect.com/science/article/pii/S1873506120301367
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