Department of Cardiovascular Surgery of the First Affiliated Hospital & Institute for Cardiovascular Science, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Suzhou Medical College, Soochow University, Suzhou 215000, China.
Department of Cardiology, Zhongshan Hospital, Shanghai Institute of Cardiovascular Disease, Fudan University, Shanghai 200032, China.
Stem Cell Res. 2024 Apr;76:103370. doi: 10.1016/j.scr.2024.103370. Epub 2024 Feb 28.
Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by diastolic dysfunction, which affects cardiac systolic function. We successfully established human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells of 24-year-old male with restrictive cardiomyopathy (RCM). The patient-derived hiPSCs carried heterozygous mutation of CRYAB gene (c.326A > G, p.D109G), which was consistent with clinical whole exon sequencing results. We confirmed the pluripotency, multipotential differentiation and karyotype of hiPSCs. The hiPSCs will be useful for studying the pathogenesis of RCM caused by CRYAB (c.326A > G) mutation.
限制型心肌病（RCM）是一种罕见的心肌病，其特征为舒张功能障碍，从而影响心脏的收缩功能。我们成功地从一位 24 岁患有限制型心肌病（RCM）的男性外周血单核细胞中建立了人类诱导多能干细胞（hiPSC）。该患者来源的 hiPSC 携带CRYAB 基因突变（c.326A>G，p.D109G），与临床全外显子测序结果一致。我们确认了 hiPSC 的多能性、多向分化潜能和核型。这些 hiPSC 将有助于研究由 CRYAB（c.326A>G）突变引起的 RCM 的发病机制。
