Chatrousse et al., Establishment of heterozygous and homozygous SHANK3 knockout clonal pluripotent stem cells from the parental hESC line SA001 using CRISPR/Cas9. https://doi.org/10.1016/j.scr.2023.103209
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 PMS patients.