Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene

• DOI: 10.1016/j.scr.2021.102284
• Publication Date: 2021-03-12T10:40:22Z
• Authors: James W.S. Jahng; Katelyn E. Black; Lichao Liu; Hye Ryeong Bae; Marco Perez; Euan A. Ashley; Karim Sallam; Joseph C. Wu
• Keywords: Plakoglobin; Germ layer

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited heart disease which can cause life-threatening arrhythmias and cardiac dysfunction. The autosomal dominant form of ARVD/C caused by mutations in the desmosome, such as those plakoglobin plakophilin-2 (PKP2) gene. Here, we generated three human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) patients carrying pathogenic variants their PKP2 genes (c.2065_2070delinsG; c.235C>T; c.1725_1728dup). All show typical morphology cells, demonstrate high expression markers, display normal karyotype, differentiate into all germ layers vitro. These are valuable resources for studying pathological mechanisms mutation.