SLC16A2:G401R或SLC16A2: H192R突变的allen - hernton - dudley综合征（AHDS）患者的两种人类诱导多能干细胞系的生成

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-04-25 DOI:10.1016/j.scr.2025.103725

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

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引用次数: 0

摘要

艾伦-赫恩顿-达德利综合征（AHDS）是一种以严重精神运动障碍为特征的x连锁疾病。它是由SLC16A2基因突变引起的，该基因编码单羧酸转运蛋白8 (MCT8)，这是一种重要的甲状腺激素转运蛋白。在这里，我们报道了两个男性患者来源的iPSC系的产生，其中包含SLC16A2:G401R或SLC16A2:H192R。

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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

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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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.