从一名携带有 TMC1 p.M418K 突变的听力损失患者中诱导生成人多能干细胞系（CPGHi001-A）。
Generation of a human induced pluripotent stem cell line (CPGHi001-A) from a hearing loss patient with the TMC1 p.M418K mutation.
机构信息
College of Otolaryngology, Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China; National Clinical Research Center for Otolaryngologic Diseases, China; Key Lab of Hearing Impairment Science of Ministry of Education, China; Key Lab of Hearing Impairment Prevention and Treatment of Beijing, China.
College of Otolaryngology, Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China; National Clinical Research Center for Otolaryngologic Diseases, China; Key Lab of Hearing Impairment Science of Ministry of Education, China; Key Lab of Hearing Impairment Prevention and Treatment of Beijing, China.
出版信息
Stem Cell Res. 2020 Dec;49:101982. doi: 10.1016/j.scr.2020.101982. Epub 2020 Sep 3.
By using a nonintegrating plasmid delivery system, we generated induced pluripotent stem cells (iPSCs) from the urine cells of a male patient from the family carrying the TMC1 p.M418K mutation. This mutation is homologous to that in Beethoven mice, which were treated by gene editing successfully. The resulting iPSCs had a normal karyotype, showed pluripotency by immunofluorescence staining, and differentiated into the three germ layers in vivo. This cellular model will provide a useful platform for investigating the pathogenic mechanisms of TMC1-related deafness, further laying the foundation for clinical transformation applications and providing a reference for the final gene therapy in humans.
我们使用非整合质粒传递系统，从携带 TMC1 p.M418K 突变的男性患者的尿液细胞中产生诱导多能干细胞（iPSCs）。该突变与贝多芬小鼠中的突变同源，后者经基因编辑成功治疗。产生的 iPSCs 具有正常的核型，通过免疫荧光染色显示多能性，并在体内分化为三个胚层。该细胞模型将为研究 TMC1 相关耳聋的发病机制提供一个有用的平台，进一步为临床转化应用奠定基础，并为人类的最终基因治疗提供参考。
Zotero 插件