从囊性纤维化患者的皮肤成纤维细胞中诱导生成多能干细胞系（RCMGi008-A），该患者 CFTR 基因中存在复合杂合 F508del/CFTRdele2.3 突变。
Generation of induced pluripotent stem cell line (RCMGi008-A) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/CFTRdele2.3 mutations in CFTR gene.
机构信息
Research Centre for Medical Genetics, Moscow 115522, Russian Federation.
Research Centre for Medical Genetics, Moscow 115522, Russian Federation.
出版信息
Stem Cell Res. 2022 Aug;63:102854. doi: 10.1016/j.scr.2022.102854. Epub 2022 Jul 7.
Skin fibroblasts obtained from a 20-year-old woman with clinically manifested and genetically proven (F508del/CFTRdele2.3) cystic fibrosis were successfully transformed into induced pluripotent stem cells (iPSCs) by using Sendai virus-based reprogramming vectors including the four Yamanaka factors, OCT3/4, SOX2, KLF4, and c-MYC. The iPSCs showed a normal karyotype, expressed pluripotency markers and exhibited the potential to differentiate into three germ layers in spontaneous differentiation assay. This iPSC line may be used for development of a personalized treatment including genome editing, disease modelling, cell differentiation and organoid formation, pharmacological investigations and drug screening.
我们利用包含四个 Yamanaka 因子（OCT3/4、SOX2、KLF4 和 c-MYC）的基于 Sendai 病毒的重编程载体，成功地将一位 20 岁患有囊性纤维化（F508del/CFTRdele2.3 基因突变）且临床表现明显的女性的皮肤成纤维细胞转化为诱导多能干细胞（iPSCs）。iPSCs 具有正常核型，表达多能性标记物，并在自发分化试验中表现出向三个胚层分化的潜能。该 iPSC 系可用于开发个性化治疗方法，包括基因组编辑、疾病建模、细胞分化和类器官形成、药理学研究和药物筛选。
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