Generation and characterization of PBMCs-derived human induced pluripotent stem cell (iPSC) line SDQLCHi051-A from an autism spectrum disorder patient with compound CHD8 gene mutations

Yuxuan Fan; Yue Li; Xiaomeng Yang; Haiyan Zhang; Bin Wang; Jingyun Guan; Jianen Gao; Xu Ma; Yi Liu

doi:10.1016/j.scr.2023.103114

Generation and characterization of PBMCs-derived human induced pluripotent stem cell (iPSC) line SDQLCHi051-A from an autism spectrum disorder patient with compound CHD8 gene mutations

Stem Cell Res. 2023 Jun:69:103114. doi: 10.1016/j.scr.2023.103114. Epub 2023 May 5.

Authors

Yuxuan Fan¹, Yue Li², Xiaomeng Yang², Haiyan Zhang², Bin Wang², Jingyun Guan², Jianen Gao³, Xu Ma³, Yi Liu⁴

Affiliations

¹ Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Ji'nan 250022, China; National Research Institute for Family Planning, Beijing 100081, China; Graduate School, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100005, China; National Human Genetic Resources Center, Beijing 102206, China.
² Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Ji'nan 250022, China.
³ National Research Institute for Family Planning, Beijing 100081, China; Graduate School, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100005, China; National Human Genetic Resources Center, Beijing 102206, China.
⁴ Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Ji'nan 250022, China. Electronic address: [email protected].

PMID: 37229974
DOI: 10.1016/j.scr.2023.103114

Abstract

CHD8 mutation is a case of genetic related autism spectrum disorder(ASD), In our research, We describe here the derivation of the iPSC line SDQLCHi051-A from a patient with autism spectrum disorder (ASD) due to two heterozygote mutations (c.6728G > A and c.3876 T > G) in the CHD8 gene. The resulting iPSC line has typical iPSCs characteristics, including pluripotency and trilineage differentiation hallmarks.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Autism Spectrum Disorder* / genetics
Autism Spectrum Disorder* / metabolism
Cell Differentiation
DNA-Binding Proteins / genetics
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation / genetics
Transcription Factors / genetics
Transcription Factors / metabolism

Substances

CHD8 protein, human
DNA-Binding Proteins
Transcription Factors