Propionic acidemia (PA) is an autosomal recessive metabolic liver disease caused by defects in propionyl CoA carboxylase. Propionyl CoA carboxylase is a dodecameric enzyme consisting of multiple copies of alpha and beta subunits encoded by the PCCA and PCCB genes. Mutations in either PCCA or PCCB can cause the disease. PA is categorized as a rare disease and accessing patients' cells to study the disease has been challenging. Here we describe the generation of two isogenic induced pluripotent stem cell (iPSC) lines in which exon 2 of the PCCB gene was mutated using CRISPR Cas9 gene editing. The PCCB^−/− iPSCs express characteristic pluripotency proteins, are competent to differentiate into cell lineages from each of the three embryonic germ layers and display a normal karyotype.

丙酸血症 (PA) 是一种常染色体隐性代谢性肝病，由丙酰辅酶 A 羧化酶缺陷引起。丙酰辅酶A羧化酶是一种十二聚体酶，由PCCA和PCCB基因编码的α和β亚基的多个拷贝组成。PCCA 或 PCCB 中的突变可导致该疾病。PA 被归类为一种罕见疾病，获取患者的细胞以研究该疾病一直具有挑战性。在这里，我们描述了两种同基因诱导多能干细胞 (iPSC) 系的生成，其中 PCCB 基因的外显子 2 使用 CRISPR Cas9 基因编辑进行了突变。PCCB ^-/- iPSC 表达特征性多能性蛋白，能够从三个胚胎胚层中的每一个分化为细胞谱系，并显示正常的核型。