de la Cruz Berta Marcó, Ding Yicheng, McInerney Veronica, Krawczyk Janusz, Lu Yin, Yang Guangming, Qian Xiaohong, Li Weidong, Howard Linda, Allen Nicholas M, O'Brien Timothy, Gallagher Louise, Shen Sanbing
Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI), Galway, Ireland.
HRB Clinical Research Facility, National University of Ireland (NUI), Galway, Ireland.
Stem Cell Res. 2020 Apr;44:101722. doi: 10.1016/j.scr.2020.101722. Epub 2020 Feb 4.
Hundreds of rare risk factors have been identified for ASD, however, the underlying causes for ~70% of sporadic cases are unknown. Sporadic ASD models are thus essential for validating phenotypic commonality and drug suitability to the majority of patients. Here, we derived induced pluripotent stem cells (iPSCs) from one sporadic ASD child and one paternal control, using non-integrating Sendai viral methods. The iPSCs strongly expressed pluripotency markers and could be differentiated into three germ layers. Their normal karyotype was validated by genome SNP array. The availability of sporadic ASD-derived iPSCs offers an opportunity for phenotypic comparison with genetic ASD models.
已经确定了数百种自闭症谱系障碍（ASD）的罕见风险因素，然而，约70%的散发性病例的潜在病因尚不清楚。因此，散发性ASD模型对于验证大多数患者的表型共性和药物适用性至关重要。在这里，我们使用非整合型仙台病毒方法，从一名散发性ASD儿童和一名父系对照中获得了诱导多能干细胞（iPSC）。这些iPSC强烈表达多能性标志物，并可分化为三个胚层。通过基因组SNP阵列验证了它们的正常核型。散发性ASD来源的iPSC的可用性为与遗传性ASD模型进行表型比较提供了机会。
