Establishment of heterozygous and homozygous SHANK3 knockout clonal pluripotent stem cells from the parental hESC line SA001 using CRISPR/Cas9


Phelan-McDermid syndrome (PMS) is a rare genetic disease characterized by a global developmental delay with autism spectrum disorder. PMS is caused by loss of function mutations in the SHANK3 gene leading to SHANK3 protein haploinsufficiency. This study describes the generation of isogenic clones produced from one male human embryonic stem cell line with deletions in SHANK3, in a heterozygous or homozygous manner, using CRISPR/Cas9 indel methodology. Differentiation of these clones into different neuronal lineages will help understanding PMS etiology and find treatments for PMD patients. (85/100 words). Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Chatrousse L, Poullion T, El-Kassar L, Giraud-Triboult K, Boissart C, Sanatine P, Sommer P, Benchoua A
Journal Stem cell research
Publication Date 2023 Oct;72:103209
PubMed 37769384
DOI 10.1016/j.scr.2023.103209

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