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Generation of two human induced pluripotent stem cell lines from Allan-Herndon-Dudley syndrome (AHDS) patients with SLC16A2:G401R or SLC16A2: H192R mutation.

Stem cell research - 1 Aug 2025

Ludwik Katarzyna A, Küchler Judit, Sebinger David, Opitz Robert, Kühnen Peter, Stachelscheid Harald

Abstract excerpt

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder characterized by profound psychomotor impairment. It is caused by mutations in the SLC16A2 gene, which encodes monocarboxylate transporter 8 (MCT8), a crucial thyroid hormone transporter. Here we report generation of two male patient-derived iPSC lines harboring either SLC16A2:G401R or SLC16A2:H192R.

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Identifiers

PMID: 40311327
DOI: 10.1016/j.scr.2025.103725

Genes

SLC16A2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Generation of two human induced pluripotent stem cell lines from Allan-Herndon-Dudley syndrome (AHDS) patients with SLC16A2:G401R or SLC16A2: H192R mutation.PMID 40311327Read ↗

Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out.Semantic proximity Read ↗

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Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome.Semantic proximity Read ↗

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