Key result
Introduction of a PLN-R9C mutation in a healthy control iPSC line using CRISPR/Cas9 successfully generated a genome-edited line with typical pluripotency and differentiation capacity to model DCM.
Why the study?
Dilated cardiomyopathy is the most common cause of heart failure, and mutations in the calcium handling protein phospholamban are known to cause inherited DCM.
The establishment of a PLN-R9C mutant iPSC line provides a valuable in vitro model for studying the molecular mechanisms of phospholamban mutation-related dilated cardiomyopathy.
New PLN-R9C iPSC line generated; leaves open functional validation and therapeutic translation in inherited DCM.
As the most common cause of heart failure, dilated cardiomyopathy (DCM) is characterized by dilated ventricles and weakened contractile force. Mutations in the calcium handling protein phospholamban (PLN) are known to cause inherited DCM. Here, we introduced a PLN-R9C mutation in a healthy control induced pluripotent stem cell (iPSC) line using CRISPR/Cas9. The genome-edited iPSC line showed typical pluripotent cell morphology, robust expression of pluripotency markers, normal karyotype, and the capacity to differentiate into all three germ layers in vitro. The PLN-R9C iPSC line provides a valuable resource to dissect the molecular mechanisms underlying PLN mutation-related DCM.
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Barndt et al. (2021) studied Dilated cardiomyopathy. CRISPR/Cas9 editing to introduce PLN-R9C mutation vs. Healthy control iPSC line was evaluated on Pluripotent cell morphology, pluripotency markers, karyotype, and differentiation capacity. Introduction of a PLN-R9C mutation in a healthy control iPSC line using CRISPR/Cas9 successfully generated a genome-edited line with typical pluripotency and differentiation capacity to model DCM.
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