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
Affiliated Authors:
Marco C Miotto
Jeevan B Gc
Joachim Frank
Andrew R Marks
Author Keywords:
calcium handling
catecholaminergic polymorphic ventricular tachycardia
induced pluripotent stem cell-derived cardiomyocytes
ryanodine receptor
sudden cardiac death
Publication Type:
Article
Unique ID:
10.1016/j.stemcr.2022.07.002
PMID:
Publication Date:
Data Source:
PubMed

Record Created: