ICAN - Institute for Cardiometabolism and Nutrition, F-75013 Paris, France.
Sorbonne Université, INSERM, UMR_S1166, AP-HP, Hôpital Pitié-Salpêtrière, F-75013 Paris, France.
Stem Cell Res. 2021 Apr;52:102245. doi: 10.1016/j.scr.2021.102245. Epub 2021 Feb 11.
MYH7 is a major gene responsible for hypertrophic cardiomyopathy (HCM). From patient's skin fibroblasts, we derived an iPSC line (CDGEN1.16) harboring the heterozygous MYH7 R403L mutation, a hot-spot codon in HCM. We subsequently corrected the mutated codon using CRISPR/Cas9 editing and obtained the isogenic control line (CDGEN1.16.40.5) preserving the genomic background of the patient. Both lines were pluripotent and could be efficiently committed to beating cardiomyocytes (CM) suitable for subsequent cell or pseudo-tissue study of HCM pathology.
MYH7 是导致肥厚型心肌病（HCM）的主要基因。我们从患者的皮肤成纤维细胞中获得了一个携带杂合 MYH7 R403L 突变的 iPSC 系（CDGEN1.16），该突变是 HCM 的热点密码子。随后，我们使用 CRISPR/Cas9 编辑纠正了突变密码子，并获得了保留患者基因组背景的同基因对照系（CDGEN1.16.40.5）。这两个系都是多能性的，可以有效地诱导分化为适合随后进行 HCM 病理学的细胞或类器官研究的搏动型心肌细胞（CM）。
