Autosomal recessive Stargardt disease is the most common cause of inherited retinal disease. In this report, we describe the generation and characterization of two human induced pluripotent stem cell (iPSC) lines from a patient with compound heterozygous mutations in the ABCA4 gene (c.[768G>T];[6079C>T]). Patient dermal fibroblasts were reprogrammed using episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for P53. The clonal iPSC lines LEIi012-A and LEIi012-B were established. Both lines had a normal karyotype, displayed iPSC morphology, expressed pluripotency genes at similar levels to control iPSC and displayed trilineage differentiation potential during embryoid body differentiation.

常染色体隐性Stargardt疾病是遗传性视网膜疾病的最常见原因。在这份报告中，我们描述了产生和两种人诱导多能干细胞（IPSC）线表征从与化合物中的杂合突变的患者ABCA4基因（C [768G> T]; [6079C> T]）。患者皮肤成纤维细胞使用编码游离质粒重新编程OCT4，SOX2，KLF4，L-MYC，LIN28，mir302 / 367微RNA和shRNA为P53。建立了克隆iPSC系LEIi012-A和LEIi012-B。两种品系均具有正常的核型，表现出iPSC形态，以与iPSC相似的水平表达多能性基因，并在胚状体分化过程中表现出三系分化潜能。