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

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

  • Stem Cell Res. 2022 Apr;60:102676. doi: 10.1016/j.scr.2022.102676.
Yong Ji 1,  Hui Lv 2,  Zilin Chen 2,  Juehua Yu 3,  Shuanfeng Fang 4,  Fei Li 5
Affiliations

Affiliations

  • 1 Central Hospital of Jing'An District, Jing'An Branch of Huashan Hospital Affiliated to Fudan University, Shanghai 200040, China.
  • 2 Developmental and Behavioural Pediatric Department & Child Primary Care Department, Brain and Behavioural Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • 3 Developmental and Behavioural Pediatric Department & Child Primary Care Department, Brain and Behavioural Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Center for Experimental Studies and Research, The First Affiliated Hospital of Kunming Medical University, Kunming 650032, China.
  • 4 Department of Child Health Care, Children's Hospital Affiliated to Zhengzhou University, City Zhengzhou, China. Electronic address: fangshuanfeng@126.com.
  • 5 Developmental and Behavioural Pediatric Department & Child Primary Care Department, Brain and Behavioural Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: feili@shsmu.edu.cn.
PMID: 35134694 DOI: 10.1016/j.scr.2022.102676
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.

Figures
Products