Fibroblasts from a patient carrying a heterozygous 18bp deletion in exon 8 of the ACVRL1 gene (c.1120del18) were reprogrammed using episomal vectors. The in-frame deletion in ACVRL1 causes the loss of 6 amino acids of the protein, which is associated with Hereditary Hemorrhagic Telangiectasia (HHT) type 2 (Letteboer et al., 2005). CRISPR-Cas9 editing was used to genetically correct the mutation in the induced pluripotent stem cells (iPSCs). The top5-predicted off-target sites were not altered. Patient and isogenic iPSCs showed high pluripotent marker expression, in vitro differentiation capacity into all three germ layers and displayed a normal karyotype. The obtained isogenic pairs will enable proper in vitro disease modelling of HHT (Roman and Hinck, 2017).

使用附加型载体对来自ACVRL1基因外显子8 （c.1120del18）携带18bp杂合缺失的患者的成纤维细胞进行重编程。ACVRL1的读框内缺失导致该蛋白质6个氨基酸的丢失，这与2型遗传性出血性毛细血管扩张（HHT）有关（Letteboer等，2005）。CRISPR-Cas9编辑被用来从基因上纠正诱导的多能干细胞（iPSC）中的突变。排名前5位的脱靶网站未更改。患者和同基因的iPSC表现出高多能标记表达，向所有三个胚层的体外分化能力，并显示出正常的核型。获得的等基因对将能够对HHT进行适当的体外疾病建模（Roman and Hinck，2017）。