Hosseini Far Hani, Patria Yudha Nur, Motazedian Ali, Elefanty Andrew G, Stanley Edouard G, Lamandé Shireen R, Bateman John F
Murdoch Children's Research Institute, University of Melbourne, Australia; Department of Paediatrics, University of Melbourne, Australia.
Murdoch Children's Research Institute, University of Melbourne, Australia.
Stem Cell Res. 2019 May;37:101449. doi: 10.1016/j.scr.2019.101449. Epub 2019 Apr 23.
To develop a disease model for the human 'brittle bone' disease, osteogenesis imperfecta, we have used gene editing to produce a facsimile of the patient heterozygous COL1A1 mutation in an established control iPSC line. The gene-edited line had a normal karyotype, expressed pluripotency markers and differentiated into cells representative of the three embryonic germ layers. This iPSC line and the isogenic parental iPSC line will be of use in exploring osteogenesis imperfecta disease mechanisms and therapeutic approaches in vitro.
为了建立人类“脆骨病”——成骨不全症的疾病模型，我们利用基因编辑技术在一个已建立的对照诱导多能干细胞（iPSC）系中制造出了患者杂合性COL1A1突变的模拟物。基因编辑后的细胞系具有正常的核型，表达多能性标志物，并分化为代表三个胚胎胚层的细胞。这个iPSC系和同基因的亲代iPSC系将用于体外探索成骨不全症的发病机制和治疗方法。
