Generation of human induced pluripotent stem cell line EURACi006-A and its isogenic gene-corrected line EURACi006-A-1 from an arrhythmogenic cardiomyopathy patient carrying the c.1643delG PKP2 mutatio

Stem Cell Res

6 August Aug 2021 one month ago
  • Sommariva E

Arrhythmogenic Cardiomyopathy (ACM) is a rare genetic cardiac disease predominantly associated with mutations in genes of the desmosomes and characterized by arrhythmia and fibro-fatty replacement of the myocardium. We generated human induced pluripotent stem cells (hiPSCs) from one patient affected by ACM carrying the heterozygous c.1643delG (p.G548VfsX15) PKP2 mutation and then corrected the mutation using CRISPR/Cas9 technology. Both original and corrected hiPSC lines showed typical morphology of pluripotent cells, expressed pluripotency markers, displayed a normal karyotype, and differentiated towards the three germ layers. This isogenic hiPSC pair can be used to study the role of the c.1643delG PKP2 mutation in vitro.

Reference

Generation of human induced pluripotent stem cell line EURACi006-A and its isogenic gene-corrected line EURACi006-A-1 from an arrhythmogenic cardiomyopathy patient carrying the c.1643delG PKP2 mutation. Meraviglia V, Ganesh S, Arendzen CH, Freund C, Sommariva E, Rossini A, Bellin M. Stem Cell Res. 2021 Jul;54:102426. doi: 10.1016/j.scr.2021.102426

Go to PubMed