Leber congenital amaurosis (LCA) is a congenital, early onset, autosomal recessive inherited retinal disease (IRD). This report describes an LCA12 patient-specific iPSC line (LVPEIi006-A), generated by the reprogramming of dermal fibroblasts using integration-free episomal plasmids.This disease-specific iPSC model carries a homozygous point mutation in , within the donor splice site at the end of exon 2 (c.296 + 1G > A). The stable line at passage 15 has displayed a normal colony morphology, expressed multiple stemness and pluripotency markers, lost all transgenes, differentiated into cell types of all three germ layers, and maintained a normal karyotype.

中文翻译：

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Leber 先天性黑蒙 12 型患者特异性诱导多能干细胞系 (LVPEIi006-A) 的产生，具有 RD3 纯合突变

莱伯先天性黑蒙 (LCA) 是一种先天性、早发性、常染色体隐性遗传性视网膜疾病 (IRD)。本报告描述了 LCA12 患者特异性 iPSC 系 (LVPEIi006-A)，该系是通过使用无整合附加型质粒对真皮成纤维细胞进行重编程而产生的。这种疾病特异性 iPSC 模型在 的供体剪接位点内携带纯合点突变。外显子 2 末端 (c.296 + 1G > A)。第15代的稳定系显示出正常的集落形态，表达多种干性和多能性标记，丢失所有转基因，分化为所有三个胚层的细胞类型，并保持正常的核型。