Kondrateva Ekaterina, Grigorieva Olga, Panchuk Irina, Bychkov Igor, Zakharova Ekaterina, Tabakov Vyacheslav, Pozhitnova Victoria, Voronina Ekaterina, Shchagina Olga, Lavrov Alexander, Smirnikhina Svetlana, Kutsev Sergey
Research Centre for Medical Genetics, Moscow 115522, Russian Federation.
Research Centre for Medical Genetics, Moscow 115522, Russian Federation.
Stem Cell Res. 2023 Dec;73:103259. doi: 10.1016/j.scr.2023.103259. Epub 2023 Nov 22.
Skin fibroblasts obtained from a 5-year-old girl with genetically proven (two heterozygous mutations in ARSB gene) and clinically manifested mucopolysaccharidosis type VI were successfully transformed into induced pluripotent stem cells by using Sendai virus-based reprogramming vectors including the four Yamanaka factors namely SOX2, OCT3/4, KLF4, and c-MYC. These iPSCs expressed pluripotency markers, had a normal karyotype and the potential to differentiate into three germ layers in spontaneous differentiation assay. The line may be used for cell differentiation and pharmacological investigations, and also may provide a model for development of a personalized treatment including drug screening and genome editing.
从一名5岁女童身上获取的皮肤成纤维细胞成功转化为诱导多能干细胞。该女童经基因检测证实患有黏多糖贮积症VI型（ARSB基因存在两个杂合突变）且有临床表现。使用基于仙台病毒的重编程载体，包括四个山中因子，即SOX2、OCT3/4、KLF4和c-MYC，实现了上述转化。这些诱导多能干细胞表达多能性标志物，具有正常的核型，并且在自发分化试验中具有分化为三个胚层的潜力。该细胞系可用于细胞分化和药理学研究，也可为包括药物筛选和基因组编辑在内的个性化治疗的开发提供模型。
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