Research Centre for Medical Genetics, Moscow 115522, Russian Federation.
Research Centre for Medical Genetics, Moscow 115522, Russian Federation.
Stem Cell Res. 2023 Aug;70:103133. doi: 10.1016/j.scr.2023.103133. Epub 2023 Jun 7.
Urine cells obtained from a 14-year-old man with genetically proven (ACVR1: c.6176G > A) and clinically manifested fibrodysplasia ossificans progressiva were successfully transformed into induced pluripotent stem cells by using Sendai virus-based reprogramming vectors including the four Yamanaka factors such as OCT3/4, SOX2, KLF4, and c-MYC. These iPSCs expressed pluripotency markers, exhibited the potential to differentiate into three germ layers in spontaneous differentiation assay and had a normal karyotype. The iPSC line may provide a model for development of a personalized treatment including genome editing and drug screening, may be used for disease modelling, cell differentiation and pharmacological investigations. .
从一名 14 岁男性患者的尿液细胞中成功获得了诱导多能干细胞（iPSC），该患者经基因检测证实（ACVR1：c.6176G>A），并具有临床表现的进行性纤维骨发育异常。使用基于 Sendai 病毒的重编程载体，包括四个 Yamanaka 因子（OCT3/4、SOX2、KLF4 和 c-MYC），成功地将这些尿液细胞转化为 iPSC。这些 iPSC 表达多能性标志物，在自发分化试验中显示出分化为三个胚层的潜能，并且具有正常的核型。该 iPSC 系可提供一种包括基因组编辑和药物筛选的个性化治疗模型，可用于疾病建模、细胞分化和药物研究。
