Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control
Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control
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DOI：
10.1016/j.scr.2021.102245
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发表时间：
2021-02-17
影响因子：
1.2
通讯作者：
Villard, Eric
中科院分区：
文献类型：
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作者：
Fontaine, Vincent;Duboscq-Bidot, Laetitia;Villard, Eric
MYH 7是导致肥厚型心肌病（HCM）的主要基因。从患者的皮肤成纤维细胞中，我们衍生出具有杂合MYH 7 R403 L突变（HCM中的热点密码子）的iPSC系（CDGEN 1.16）。我们随后使用CRISPR/Cas9编辑校正了突变的密码子，并获得了保留患者基因组背景的等基因对照系（CDGEN 1.16.40.5）。这两种细胞系都是多能的，并且可以有效地致力于搏动心肌细胞（CM），适用于随后的HCM病理学的细胞或假组织研究。
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.