Generation of a human iPSC line CIPi001-A from a benign familial infantile epilepsy patient related 16p11.2 deletion

作者：Ji, Xinna; Gao, Yanyan; Zhang, Pingping; Jin, Ziqi; Zhang, Yan; Yang, Minna; Zhang, Xue; Chen, Qian^*

来源：Stem Cell Research, 2022, 59: 102634.

DOI：10.1016/j.scr.2021.102634

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 in vitro.

• 单位
  哈尔滨医科大学