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

Summary

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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Wang T, Zhang J, Liu J, Lai X
Journal Stem cell research
Publication Date 2021 Dec;57:102567
PubMed 34678662
DOI 10.1016/j.scr.2021.102567

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