Journal
STEM CELL RESEARCH
Volume 73, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2023.103256
Keywords
Allan -Herndon -Dudley syndrome; MCT8
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Using CRISPR/Cas9 technology, the missense variant and novel knock-out deletion variant of the SLC16A2 gene associated with Allan-Herndon-Dudley syndrome were introduced into healthy donor cells, leading to the successful generation of cerebral organoids to model the effects of MCT8 deficiency on human neurodevelopment.
The X-linked Allan-Herndon-Dudley syndrome (AHDS) is characterized by severely impaired psychomotor development and is caused by mutations in the SLC16A2 gene encoding the thyroid hormone transporter MCT8 (monocarboxylate transporter 8). By targeting exon 3 of SLC16A2 using CRISPR/Cas9 with single-stranded oligodeoxynucleotides as homology-directed repair templates, we introduced the AHDS patient missense variant G401R and a novel knock-out deletion variant (F400Sfs*17) into the male healthy donor hiPSC line BIHi001-B. We successfully generated cerebral organoids from these genome-edited lines, demonstrating the utility of the novel lines for modelling the effects of MCT8-deficency on human neurodevelopment.
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