Ji Xinna, Gao Yanyan, Zhang Pingping, Jin Ziqi, Zhang Yan, Yang Minna, Zhang Xue, Chen Qian
Department of Neurology, Capital Institute of Pediatrics, China.
Harbin Medical University, China.
Stem Cell Res. 2022 Mar;59:102634. doi: 10.1016/j.scr.2021.102634. Epub 2022 Jan 3.
The features of 16p11.2 deletion phenotype is developmental delay, intellectual disability, and autism spectrum disorder. Seizures are observed in approximately 20% of individuals with the microdeletion. Induced pluripotent stem cells (iPSCs) were generated from erythroblasts obtained from a child diagnosed with benign familial infantile epilepsy, caused by 16p11.2 deletion. These iPSCs exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three germ layers in vitro.
16p11.2缺失表型的特征为发育迟缓、智力残疾和自闭症谱系障碍。在约20%的微缺失个体中观察到癫痫发作。诱导多能干细胞（iPSC）由一名被诊断患有由16p11.2缺失引起的良性家族性婴儿癫痫的儿童的成红细胞生成。这些iPSC表现出稳定扩增，表达多能性标志物，并在体外自发分化为三个胚层。
