Xu Maojia, Stattin Eva-Lena, Murphy Mary, Barry Frank
Regenerative Medicine Institute, National University of Ireland Galway, Galway, Ireland.
Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 751 85 Uppsala, Sweden.
Stem Cell Res. 2017 Oct;24:51-54. doi: 10.1016/j.scr.2017.07.024. Epub 2017 Jul 24.
Pathogenic sequence variants in the Sorting Nexin 10 (SNX10) gene have been associated with autosomal recessive osteopetrosis (ARO) in human. In this study, an induced pluripotent stem cell (iPSC) line (ARO-iPSC1-11) was generated from an ARO patient carrying the homozygous c.212+1G>T mutation in SNX10, using a retroviral-based reprogramming protocol. Characterization confirmed that the generated iPSCs expressed pluripotency markers, displayed normal karyotype, showed pluripotent differentiation capacity and retained the targeted mutation. Disease modeling with this ARO patient-specific iPSC line will shed further light on the critical role of the SNX10 mutation in ARO development.
分选连接蛋白10（SNX10）基因中的致病性序列变异与人类常染色体隐性骨硬化症（ARO）相关。在本研究中，使用基于逆转录病毒的重编程方案，从一名携带SNX10基因纯合c.212+1G>T突变的ARO患者中生成了诱导多能干细胞（iPSC）系（ARO-iPSC1-11）。特性鉴定证实，所生成的iPSC表达多能性标志物，具有正常的核型，具备多能分化能力，并保留了靶向突变。利用该ARO患者特异性iPSC系进行疾病建模，将进一步揭示SNX10突变在ARO发展中的关键作用。
