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

Xinna Ji; Yanyan Gao; Pingping Zhang; Ziqi Jin; Yan Zhang; Minna Yang; Xue Zhang; Qian Chen

doi:10.1016/j.scr.2021.102634

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

Stem Cell Res. 2022 Mar:59:102634. doi: 10.1016/j.scr.2021.102634. Epub 2022 Jan 3.

Authors

Xinna Ji¹, Yanyan Gao¹, Pingping Zhang¹, Ziqi Jin¹, Yan Zhang¹, Minna Yang¹, Xue Zhang², Qian Chen³

Affiliations

¹ Department of Neurology, Capital Institute of Pediatrics, China.
² Harbin Medical University, China.
³ Department of Neurology, Capital Institute of Pediatrics, China. Electronic address: dr_chenqian@163.com.

PMID: 34995844
DOI: 10.1016/j.scr.2021.102634

Abstract

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.