Journal
STEM CELL RESEARCH
Volume 46, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2020.101835
Keywords
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Funding
- Transnational Research Project on Cardiovascular Diseases [JTC2016_FP-40-021 ACM-HF]
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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.2013deIC (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.2013deIC PKP2 mutation in vitro.
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