Tubulin tyrosine ligase variant perturbs microtubule tyrosination causing hypertrophy in patient-specific and CRISPR gene-edited iPSC-cardiomyocytes

To gain a deeper understanding of the molecular mechanisms underlying disease pathology, we performed global RNA-Seq on WT and TTL mutant induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs). Our RNA-Seq analysis revealed 906 differentially expressed genes, including genes involved in sarcomeric organization, mitochondrial functions, redox metabolism and calcium-handling genes related to contractile function of the heart.