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Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out

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Item Type:Article
Title:Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out
Creators Name:Ludwik, K.A., Opitz, R., Jyrch, S., Megges, M., Weiner, J., Beule, D., 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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