Murdoch Children's Research Institute, Australia.
Department of Chemistry, Massachusetts Institute of Technology, USA.
Stem Cell Res. 2020 Oct;48:101962. doi: 10.1016/j.scr.2020.101962. Epub 2020 Sep 6.
To develop an in vitro disease model of a human chondrodysplasia, we used CRISPR/Cas9 gene editing to generate a heterozygous COL2A1 exon 50 c.3508 GGT > TCA (p.G1170S) mutation in a control human iPSC line. Both the control and COL2A1 mutant lines displayed typical iPSC characteristics, including normal cell morphology, expression of pluripotency markers, the ability to differentiate into endoderm, ectoderm and mesoderm lineages and normal karyotype. These chondrodysplasia mutant and isogenic control cell lines can be used to explore disease mechanisms underlying type II collagenopathies and aid in the discovery of new therapeutic strategies.
为了开发一种人类软骨发育不全症的体外疾病模型，我们使用 CRISPR/Cas9 基因编辑技术在对照人诱导多能干细胞（iPSC）系中产生 COL2A1 外显子 50 c.3508 GGT>TCA（p.G1170S）杂合突变。对照和 COL2A1 突变系均显示出典型的 iPSC 特征，包括正常的细胞形态、多能性标记物的表达、向内胚层、外胚层和中胚层谱系分化的能力以及正常的核型。这些软骨发育不全突变体和同基因对照细胞系可用于探索 II 型胶原病的发病机制，并有助于发现新的治疗策略。
