Abstract：
In this study, peripheral blood mononuclear cells were contributed from a male infant with propionic acidemia (PA) verified by clinical and genetic diagnosis, who inherited compound heterozygous mutations in the propionyl-CoA carboxylase subunit beta (PCCB) gene. Here, this iPS was generated by non-integrated episomal vectors with SOX2, BCL-XL, OCT4, C-MYC and OCT4. Also, this iPSC line exhibited the morphology of pluripotent stem cells, upward mRNA and protein expression of pluripotency markers, conspicuous in vitro differentiation potency and regular karyotype, and carried PCCB gene mutations, which provided an excellent model for the research and drug screening of PA.
摘要：
在这项研究中,外周血单核细胞来自一名经临床和基因诊断证实的男性丙酸血症（PA）婴儿，谁遗传了丙酰辅酶A羧化酶亚基β（PCCB）基因的复合杂合突变。这里,这种iPS是由非整合的游离载体与SOX2，BCL-XL，OCT4、C-MYC和OCT4。此外，这个iPSC系表现出多能干细胞的形态，多能性标志物的mRNA和蛋白表达上调，显著的体外分化潜能和常规核型，携带PCCB基因突变，为PA的研究和药物筛选提供了良好的模型。
