Renjie Wang, Moyu Hasegawa, Hidehiro Suginobe, Chika Yoshihara, Yoichiro Ishii, Atsuko Ueyama, Kazutoshi Ueda, Kazuhisa Hashimoto, Masaki Hirose, Ryo Ishii, Jun Narita, Takuji Watanabe, Takuji Kawamura, Masaki Taira, Takayoshi Ueno, Shigeru Miyagawa, Hidekazu Ishida
BACKGROUND: Restrictive cardiomyopathy (RCM) is characterized by impaired diastolic function with preserved ventricular contraction. Several pathogenic variants in sarcomere genes, including TNNI3 , are reported to cause Ca2+ hypersensitivity in cardiomyocytes in overexpression models; however, the pathophysiology of induced pluripotent stem cell (iPSC)-derived cardiomyocytes specific to a patient with RCM remains unknown. METHODS AND RESULTS: We established an iPSC line from a pediatric patient with RCM and a heterozygous TNNI3 missense variant, c...
March 18, 2024: Journal of the American Heart Association