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

Stem Cell Research (Jun 2023)

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

Affiliations

Yuxuan Fan: 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
Yue Li: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China
Xiaomeng Yang: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China
Haiyan Zhang: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China
Bin Wang: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China
Jingyun Guan: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China
Jianen Gao: 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
Xu Ma: 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
Yi Liu: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China; Corresponding author.

Journal volume & issue: Vol. 69
p. 103114

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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