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Generation of an induced pluripotent stem cell line SMBCi010-A from a male with Multiple Osteochondroma carrying a EXT1 mutation
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-12-07 , DOI: 10.1016/j.scr.2020.102111
Yazhou Cui 1 , Jing Wang 1 , Genglin Zhang 1 , Jing Luan 1 , Jinxiang Han 1
Affiliation  

Multiple Osteochondroma is an abnormal skeleton development autosomal dominant genetic disease which caused by the mutation of EXT1 gene. In this study, we generated induced pluripotent stem cells (iPSCs) from the mesenchymal stem cells (MSCs) of a 12-year-old male patient by reprogramming MSCs with non-integrative vectors. The iPSCs line expresses pluripotent markers, has a normal male karyotype and can differentiate into the three germ layers.



中文翻译:


从携带 EXT1 突变的多发性骨软骨瘤男性中产生诱导多能干细胞系 SMBCi010-A



多发性骨软骨瘤是一种由EXT1基因突变引起的骨骼发育异常的常染色体显性遗传病。在这项研究中,我们通过使用非整合载体对 MSC 进行重编程,从一名 12 岁男性患者的间充质干细胞 (MSC) 中产生了诱导多能干细胞 (iPSC)。 iPSCs 系表达多能标记,具有正常的雄性核型,并且可以分化为三个胚层。

更新日期:2020-12-25
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