在患者来源的人诱导多能干细胞系中纠正导致艾伦-赫恩登-达德利综合征的SLC16A2基因突变G401R。
Correction of the Allan-Herndon-Dudley syndrome-causing SLC16A2 mutation G401R in a patient derived hiPSC line.
作者信息
Ludwik Katarzyna A, Opitz Robert, Jyrch Sabine, Megges Matthias, Kühnen Peter, Stachelscheid Harald
机构信息
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.
出版信息
Stem Cell Res. 2025 Jun;85:103698. doi: 10.1016/j.scr.2025.103698. Epub 2025 Mar 12.
The X-linked Allan-Herndon-Dudley syndrome (AHDS) is a genetic disorder characterized by severe psychomotor impairment, resulting from mutations in the SLC16A2 gene, which encodes the thyroid hormone transporter MCT8 (monocarboxylate transporter 8). Previously, we established a hiPSC line from a patient carrying the SLC16A2:R401G mutation (BIHi045-A). Using CRISPR/Cas9-mediated gene editing, we targeted exon 3 of SLC16A2 and used single-stranded oligodeoxynucleotides as homology-directed repair templates to correct the R401G missense mutation, generating an isogenic control cell line.
X连锁的艾伦-赫恩登-达德利综合征（AHDS）是一种遗传性疾病，其特征为严重的精神运动障碍，由SLC16A2基因突变所致，该基因编码甲状腺激素转运体MCT8（单羧酸转运体8）。此前，我们从一名携带SLC16A2:R401G突变的患者中建立了一个人诱导多能干细胞系（BIHi045-A）。利用CRISPR/Cas9介导的基因编辑技术，我们靶向SLC16A2的外显子3，并使用单链寡脱氧核苷酸作为同源定向修复模板来纠正R401G错义突变，从而生成了一个等基因对照细胞系。
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