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

Viviana Meraviglia; Christiaan H Arendzen; Merve Tok; Christian Freund; Angela Serena Maione; Elena Sommariva; Milena Bellin

doi:10.1016/j.scr.2020.101835

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 Res. 2020 Jul:46:101835. doi: 10.1016/j.scr.2020.101835. Epub 2020 May 5.

Authors

Viviana Meraviglia¹, Christiaan H Arendzen², Merve Tok³, Christian Freund², Angela Serena Maione⁴, Elena Sommariva⁴, Milena Bellin⁵

Affiliations

¹ Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: [email protected].
² Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, The Netherlands; Leiden University Medical Center hiPSC Hotel, Leiden, The Netherlands.
³ Leiden University Medical Center hiPSC Hotel, Leiden, The Netherlands; Department of Cell and Chemical Biology, Leiden University Medical Center, Leiden, The Netherlands.
⁴ Vascular Biology and Regenerative Medicine Unit, Centro Cardiologico Monzino IRCCS, Milan, Italy.
⁵ Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: [email protected].

PMID: 32485643
DOI: 10.1016/j.scr.2020.101835

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cardiomyopathies*
Cell Differentiation
Heterozygote
Humans
Induced Pluripotent Stem Cells*
Mutation
Plakophilins / genetics

Substances

PKP2 protein, human
Plakophilins