Generation of a human induced pluripotent stem cell line (SJTUXHi002-A) from an individual with autism spectrum disorder carrying a heterozygous mutation in GRIA2

Abstract

Herein, we report the generation of a human induced pluripotent stem cell (iPSC) line from an autism spectrum disorder (ASD) patient carrying the c.1998delT mutation in GRIA2 gene. The generated iPSC line exhibits normal karyotype, pluripotency markers and was able to differentiate into three germ layers. The iPSC line retained the GRIA2 mutation (c.1998delT), which could provide a valuable resource for investing pathogenic mechanisms underlying ASD and facilitating the development of targeted medicine.