Figure 2.
mtDNA NGS of three separate isogenic sets bearing the p.R453C-βMHC mutation. Analysis of mtDNA sequence of isogenic sets of fibroblasts, hPSCs and hPSC-CMs of AT1 (top), REBL-PAT (middle) and HUES7 (bottom) identified variants specific to the starting cell sources. Legend map on the right side indicates type of mtDNA mutation (DEL, deletion; INS, insertion; SNV, single nucleotide variant) and percent heteroplasmy is correlated with the size of the symbol (WT, wild-type; het, heterozygous; HOM, homozygous; KO, knock-out).