Generation of an induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient with a pathogenic myosin binding protein C (MYBPC3) p.Arg502Trp mutation

从患有致病性肌球蛋白结合蛋白 C (MYBPC3) p.Arg502Trp 突变的肥厚性心肌病患者中生成诱导性多能干细胞系

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作者:Mira Holliday, Samantha Barratt Ross, Seakcheng Lim, Christopher Semsarian

Abstract

Hypertrophic cardiomyopathy is an inherited cardiomyopathy with a prevalence of up to 1 in 200, which can result in significant morbidity and mortality. An iPSC line was generated from peripheral blood mononuclear cells obtained from the whole blood of a 58-year-old male with hypertrophic cardiomyopathy who carries the heterozygous pathogenic myosin binding protein C mutation p.Arg502Trp. Induced pluripotent stem cells express pluripotency markers, demonstrate trilineage differentiation potential, and display a normal karyotype. This line is a useful resource for studying and modeling hypertrophic cardiomyopathy. Resource table.

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