Human induced pluripotent stem cells (hiPSCs) from individual patient basis are considered a powerful resource to model human diseases. However, to study complex multigenic diseases such as Congenital Heart Disease, it is crucial to generate perfect isogenic controls to understand gene singularity and contribution. Here, we report the engendering of an isogenic hiPSC line with homozygous correction of c.455G > A alteration in the DAND5 gene, using CRISPR/Cas9 technology. The characterization of a clone of this cell line demonstrates normal karyotype, pluripotent state, and potential to differentiate in vitro towards endoderm, mesoderm, and ectoderm.

来自个体患者的人类诱导的多能干细胞（hiPSC）被认为是模拟人类疾病的强大资源。但是，要研究复杂的多基因疾病（如先天性心脏病），至关重要的是要产生完善的等基因控制，以了解基因的奇异性和贡献。在这里，我们报道了使用CRISPR / Cas9技术对c.455G> DAND5基因的纯合性进行纯合校正的同基因hiPSC品系的产生。该细胞系克隆的表征显示出正常的核型，多能状态以及体外分化为内胚层，中胚层和外胚层的潜力。