12 型莱伯先天性黑蒙症患者特异性诱导多能干细胞系（LVPEIi006-A）的建立，该细胞系携带 RD3 基因的纯合突变。
Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3.
机构信息
Centre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, Telangana, India; Manipal Academy of Higher Education, Manipal, Karnataka, India.
Centre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, Telangana, India.
出版信息
Stem Cell Res. 2024 Jun;77:103380. doi: 10.1016/j.scr.2024.103380. Epub 2024 Mar 10.
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 RD3, 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.
Leber 先天性黑矇（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）。本报告描述了使用无整合的附加体质粒对皮肤成纤维细胞进行重编程而产生的 LCA12 患者特异性 iPSC 系（LVPEIi006-A）。该疾病特异性 iPSC 模型在供体位点剪接处的外显子 2 末端（c.296+1G>A）携带 RD3 的纯合点突变。在第 15 代的稳定系中，已显示出正常的集落形态，表达了多个干性和多能性标志物，失去了所有转基因，分化为三个胚层的细胞类型，并保持正常核型。
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