Department of Neurology, Shanghai Children's Hospital, Shanghai JiaoTong University, Shanghai 200062, China.
NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200040, China.
Stem Cell Res. 2020 Jul;46:101872. doi: 10.1016/j.scr.2020.101872. Epub 2020 Jun 6.
Allan-Herndon-Dudley syndrome (AHDS) is a rare, X-chromosome-linked inherited disorder that affects brain development and is caused by a mutation in SLC16A2. Herein, we generated an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells of a one-year-old male infant with AHDS using Sendai-virus-mediated reprogramming. These iPSCs exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three germ layers in vitro. Additionally, this iPSC line was found to maintain a normal karyotype and retain the pathogenic mutation in SLC16A2, facilitating the study of disease mechanisms and development of new therapies of AHDS.
Allan-Herndon-Dudley 综合征（AHDS）是一种罕见的 X 染色体连锁遗传性疾病，影响大脑发育，由 SLC16A2 中的突变引起。在此，我们使用 Sendai 病毒介导的重编程技术，从一名患有 AHDS 的一岁男性婴儿的外周血单核细胞中生成了一个诱导多能干细胞（iPSC）系。这些 iPSC 表现出稳定的扩增，表达多能标记物，并在体外自发分化为三个胚层。此外，该 iPSC 系被发现保持正常核型，并保留 SLC16A2 中的致病突变，这有利于研究疾病机制和开发 AHDS 的新疗法。
