IUF-Leibniz Research Institute for Environmental Medicine, Düsseldorf, Germany.
Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
Stem Cell Res. 2022 Dec;65:102971. doi: 10.1016/j.scr.2022.102971. Epub 2022 Nov 14.
Human dermal fibroblasts from a Leigh Syndrome (LS) patient harboring the heterozygous NDUFS1 R557X/D618N compound mutation were reprogrammed to generate integration-free induced pluripotent stem cells (iPSCs). The full characterization of IUFi002-A-iPSCs demonstrated that the line is free of exogenous reprogramming genes and maintains the genomic integrity. IUFi002-A-iPSCs' pluripotency was confirmed by the expression of pluripotency markers and embryoid body-based differentiation into cell types representative of each of the three germ layers. The generated iPSC line provides a powerful tool to investigate LS and analyze the molecular mechanisms underlying NDUFS1 mutations-induced pathology.
一名 Leigh 综合征（LS）患者的人真皮成纤维细胞携带有杂合 NDUFS1 R557X/D618N 复合突变，被重新编程为生成无整合的诱导多能干细胞（iPSCs）。IUFi002-A-iPSCs 的全面特征表明，该细胞系没有外源重编程基因，并且保持基因组完整性。通过多能性标记的表达和类胚体分化为代表三个胚层的每种细胞类型，证实了 IUFi002-A-iPSCs 的多能性。该生成的 iPSC 系为研究 LS 和分析 NDUFS1 突变诱导的病理的分子机制提供了有力的工具。
