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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number101835
JournalStem Cell Research
Volume46
DOIs
Publication statusPublished - Jul 2020

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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