Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential

Stutzman, M. J., Kim, C. S. J., Tester, D. J., Hamrick, S. K., Dotzler, S. M., Giudicessi, J. R., Miotto, M. C., GC, J. B., Frank, J., Marks, A. R., & Ackerman, M. J. (2022). Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential. Stem Cell Reports, 17(9), 2023–2036. https://doi.org/10.1016/j.stemcr.2022.07.002

Authors:

Marissa J Stutzman

C S John Kim

David J Tester

Samantha K Hamrick

Steven M Dotzler

John R Giudicessi

Marco C Miotto

Jeevan B Gc

Joachim Frank

Andrew R Marks

Michael J Ackerman