Generation of a heterozygous SOX10 knockout human embryonic stem cell line using CRISPR/Cas9 technology

Tao Wang; Jinli Zhang; Jia Liu; Xingqiang Lai

doi:10.1016/j.scr.2021.102567

Generation of a heterozygous SOX10 knockout human embryonic stem cell line using CRISPR/Cas9 technology

Stem Cell Res. 2021 Dec:57:102567. doi: 10.1016/j.scr.2021.102567. Epub 2021 Oct 11.

Authors

Tao Wang¹, Jinli Zhang², Jia Liu³, Xingqiang Lai⁴

Affiliations

¹ Center for Stem Cell Biology and Tissue Engineering, Key Laboratory for Stem Cells and Tissue Engineering, Ministry of Education, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, Guangdong, China; Department of Biochemistry, Zhongshan Medical School, Sun Yat-Sen University, Guangzhou, Guangdong, China.
² Guangzhou Institute of Traumatic Surgery, Guangzhou Red Cross Hospital, Medical Collage, Jinan University, Guangzhou, China.
³ VIP Medical Service Center, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China. Electronic address: liuj683@mail.sysu.edu.cn.
⁴ Cardiovascular Department, The Eighth Affiliated Hospital, Sun Yat-Sen University, Shenzhen, Guangdong, China. Electronic address: laixq8@mail.sysu.edu.cn.

PMID: 34678662
DOI: 10.1016/j.scr.2021.102567

Abstract

SOX10 is one of the master transcription factors in neural crest development. Human SOX10 mutations are associated with Waardenburg syndrome type 4 (Waardenburg-Shah, WS4), which can be inherited in both autosomal dominant and recessive patterns. Here, the human embryonic stem cell (hESC) line, H9, was used to generate a heterozygous SOX10 knockout cell line as the in vitro model of WS4 by CRISPR/Cas9-mediated gene targeting. This cell line may represent a valuable tool for uncovering the pathogenesis of WS4.