Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, characterised by the development of multiple fluid-filled cysts in the kidneys and other organs. PKD1 and PKD2 are the two major causative genes encoding for polycystin-1 and polycystin-2, respectively. Here, we report the generation of two isogenic induced pluripotent stem cell (iPSC) lines with either heterozygous or compound heterozygous mutations in the PKD1 gene using CRISPR-Cas9 technology. The PKD1^+/- and PKD1^-/- iPSCs maintain stem cell-like morphology, normal karyotype, pluripotency and differentiation capacity in the three germ layers.

常染色体显性遗传性多囊肾（ADPKD）是最常见的遗传性肾脏疾病，其特征是在肾脏和其他器官中形成了多个充满液体的囊肿。PKD1和PKD2是分别编码polycystin-1和polycystin-2的两个主要致病基因。在这里，我们报道了使用CRISPR-Cas9技术在PKD1基因中具有杂合或复合杂合突变的两个等基因诱导多能干细胞（iPSC）系的产生。的PKD1 ^+/-和PKD1 ^{- / -}的iPSC维持干细胞样的形态，正常核型，多能性和分化能力，在三种胚层。