从一位携带 MYO7A c.496del 纯合变异的 1B 型 Usher 综合征患者中生成两个诱导多能干细胞系。
Generation of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A variant.
机构信息
Ear Science Institute Australia, Nedlands, Western Australia, Australia; Curtin Medical School, Faculty of Health Sciences, Curtin University, Bentley, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
Ear Science Institute Australia, Nedlands, Western Australia, Australia; School of Human Sciences, The University of Western Australia, Nedlands, Western Australia, Australia.
出版信息
Stem Cell Res. 2024 Sep;79:103492. doi: 10.1016/j.scr.2024.103492. Epub 2024 Jul 9.
Usher syndrome (USH) is the most common cause of inherited deaf-blindness. Here, we produced the LEIi020-A and LEIi020-B induced pluripotent stem cell (iPSC) lines from dermal fibroblasts derived from a patient with USH1B caused by inheritance of homozygous c.496del variants in MYO7A using episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for TP53. Both iPSC lines expressed pluripotency markers, demonstrated trilineage differentiation potential and displayed a 46,XY karyotype. These cell lines represent a valuable resource for the production of retinal and otic tissues to support research into the pathogenesis and treatment of USH1B.
先天性耳聋-失明综合征（Usher 综合征，USH）是遗传性聋盲的最常见病因。在此，我们利用含有 OCT4、SOX2、KLF4、L-MYC、LIN28、miR302/367 微小 RNA 和 TP53 的 shRNA 的附加体质粒，从一位 USH1B 患者的皮肤成纤维细胞中诱导产生了 LEIi020-A 和 LEIi020-B 诱导多能干细胞（iPSC）系，该患者因 MYO7A 的纯合 c.496del 变异而遗传致病。两条 iPSC 系均表达多能性标志物，具有三胚层分化潜能，并显示 46,XY 核型。这些细胞系为视网膜和耳组织的产生提供了有价值的资源，支持对 USH1B 发病机制和治疗的研究。
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