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Article

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

Stem cell research - 1 Dec 2023

Ludwik Katarzyna Anna, Opitz Robert, Jyrch Sabine, Megges Matthias, Weiner January, Beule Dieter, Kühnen Peter, Stachelscheid Harald

Abstract excerpt

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...

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Identifiers

PMID: 38006677
DOI: 10.1016/j.scr.2023.103256

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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