Ludwik Katarzyna A, Küchler Judit, Sebinger David, Opitz Robert, Kühnen Peter, Stachelscheid Harald
Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Core Unit pluripotent Stem Cells and Organoids, 13353 Berlin, Germany.
Department of Pediatric Endocrinology and Diabetology, Charité - Universitätsmedizin Berlin 13353 Berlin, Germany.
Stem Cell Res. 2025 Aug;86:103725. doi: 10.1016/j.scr.2025.103725. Epub 2025 Apr 25.
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.
艾伦-赫恩登-达德利综合征（AHDS）是一种X连锁疾病，其特征为严重的精神运动障碍。它由SLC16A2基因突变引起，该基因编码单羧酸转运蛋白8（MCT8），这是一种关键的甲状腺激素转运蛋白。在此，我们报告了两个携带SLC16A2:G401R或SLC16A2:H192R突变的男性患者来源的诱导多能干细胞系的产生。
