Hemophilia A is an ideal target for cell or gene therapy because a mild increase in coagulation factor VIII (FVIII) improves symptoms in patients with severe hemophilia A. In this study, we used CRISPR/Cas9 to insert FVIII cDNA into exon 1 of the mutant FVIII locus in induced pluripotent stem cells (iPSCs) from a hemophilia A patient. This gene-modified YCMi001-B-1 line maintained its pluripotency, formed all three germ layers, and had a normal karyotype. In addition, FVIII expression was confirmed in YCMi001-B-1-derived endothelial cells.

中文翻译：

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通过使用CRISPR / Cas9靶向插入凝血因子FVIII，生成基因编辑的血友病患者来源的iPSC细胞系YCMi001-B-1。

血友病A是细胞或基因治疗的理想靶点，因为凝血因子VIII（FVIII）的轻度升高可改善重度血友病A患者的症状。在这项研究中，我们使用CRISPR / Cas9将FVIII cDNA插入突变体的外显子1中来自血友病A患者的诱导多能干细胞（iPSC）中的FVIII基因座。该基因修饰的YCMi001-B-1系保持其多能性，形成所有三个胚层，并具有正常的核型。另外，在源自YCMi001-B-1的内皮细胞中证实了FVIII表达。