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| Item Type: | Article |
|---|---|
| Title: | Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out |
| Creators Name: | Ludwik, K.A. and Opitz, R. and Jyrch, S. and Megges, M. and Weiner, J. and Beule, D. and Kühnen, P. and Stachelscheid, H. |
| Abstract: | 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. |
| Keywords: | Allan-Herndon-Dudley Syndrome, SLC16A2, MCT8 |
| Source: | Stem Cell Research |
| ISSN: | 1873-5061 |
| Publisher: | Elsevier |
| Volume: | 73 |
| Page Range: | 103256 |
| Date: | 21 November 2023 |
| Official Publication: | https://doi.org/10.1016/j.scr.2023.103256 |
| PubMed: | View item in PubMed |
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