Generation of two human induced pluripotent stem cell lines from Allan-Herndon-Dudley syndrome (AHDS) patients with SLC16A2:G401R or SLC16A2: H192R mutation
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.
Authors
- David Sebinger (ORCID: https://orcid.org/0009-0002-9028-0941)
- Harald Stachelscheid (ORCID: https://orcid.org/0000-0002-9283-4605)
- Katarzyna A. Ludwik
- Peter Kühnen (ORCID: https://orcid.org/0000-0003-0211-176X)
- Judit Küchler
- Robert Opitz (ORCID: https://orcid.org/0000-0003-3143-0997)
Institutions
- Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE)
- Charité - Universitätsmedizin Berlin (DE)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-04-25
- DOI
- https://doi.org/10.1016/j.scr.2025.103725
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Deutsche Forschungsgemeinschaft