Mutations in the USH2A gene are the most common cause of Usher syndrome and autosomal recessive non-syndromic retinitis pigmentosa. Here, we describe the generation of three induced pluripotent stem cell lines from dermal fibroblasts derived from a patient carrying biallelic c.949C > A and c.1256G > T variants in the USH2A gene, using episomal reprogramming plasmids expressing OCT4, SOX2, KLF4, MYCL, LIN28, mir302/367 and shRNA targeting TP53. All three lines expressed pluripotency markers, displayed unaltered karyotypes as well as trilineage differentiation potential, and were negative for reprogramming episomes and mycoplasma.

USH2A基因突变是Usher综合征和常染色体隐性隐性非综合征性视网膜色素变性的最常见原因。在这里，我们描述了从皮肤成纤维细胞诱导3个多能干细胞系来源于患者携带等位基因c.949C> A和代c.1256G> T IN的变体USH2A基因，使用表达游离重编程质粒OCT4，SOX2，KLF4，MYCL，LIN28，mir302 / 367和靶向TP53的shRNA 。所有这三个品系均表达多能性标记物，显示出未改变的核型以及三系分化潜能，并且对于重编程附加体和支原体呈阴性。