Functional and transcriptomic insights into pathogenesis of R9C phospholamban mutation using human induced pluripotent stem cell-derived cardiomyocytes.

doi:10.1016/j.yjmcc.2018.05.007

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Article

Functional and transcriptomic insights into pathogenesis of R9C phospholamban mutation using human induced pluripotent stem cell-derived cardiomyocytes.

Journal of molecular and cellular cardiology - 1 Jun 2018

Ceholski Delaine K, Turnbull Irene C, Kong Chi-Wing, Koplev Simon, Mayourian Joshua, Gorski Przemek A, Stillitano Francesca, Skodras Angelos A, Nonnenmacher Mathieu, Cohen Ninette, Björkegren Johan L M, Stroik Daniel R, Cornea Razvan L, Thomas David D, Li Ronald A, Costa Kevin D, Hajjar Roger J

Abstract excerpt

Dilated cardiomyopathy (DCM) can be caused by mutations in the cardiac protein phospholamban (PLN). We used CRISPR/Cas9 to insert the R9C PLN mutation at its endogenous locus into a human induced pluripotent stem cell (hiPSC) line from an individual with no cardiovascular disease. R9C PLN hiPSC-CMs display a blunted β-agonist response and defective calcium handling. In 3D human engineered cardiac tissues (hECTs),...

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PMID: 29752948
DOI: 10.1016/j.yjmcc.2018.05.007
PMCID: PMC6039110

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