Fig. 1: Generation and characterization of patient-derived and gene-edited PKP2-mutant iPSC lines. | Communications Biology

Fig. 1: Generation and characterization of patient-derived and gene-edited PKP2-mutant iPSC lines.

From: Modelling arrhythmogenic cardiomyopathy fattyfibro pathology with PKP2-deficient epicardial cells derived from human iPSCs

Fig. 1

A Pedigrees and genotypes of ACM patient families 1025 and 398, showing inheritance of PKP2 mutations. Family 1025 carries a nonsense mutation (PKP2 c.1849C>T, p.Q617X), and Family 398 carries a frameshift mutation (PKP2 c.2013delC, p.P672fsX683). Squares represent males and circles represent females. Shaded symbols indicate individuals from whom iPSC lines were derived. Gene-corrected control lines were generated using CRISPR/Cas9 and are denoted by dashed lines. Predicted protein structures show the location and potential structural impact of the mutations. Sanger sequencing traces confirm the presence of the mutant allele (top) and successful correction (bottom) for both patient-derived lines (1025–100 and 398–110). B Schematic of the human PKP2 gene locus, including isoforms Pkp2a and Pkp2b. Arrows indicate transcriptional direction. The position of exon 2, which harbors the mutations used in this study, is highlighted in red. Generation of isogenic control, ACM, and PKP2KO human pluripotent stem cells (hPSCs).

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