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Generation of an induced pluripotent stem cell line (SHCDNi003-A) from a one-year-old Chinese Han infant with Allan-Herndon-Dudley syndrome.
Stem Cell Research ( IF 1.2 ) Pub Date : 2020-06-06 , DOI: 10.1016/j.scr.2020.101872 Anqi Wang 1 , Jiaming Xi 1 , Fang Yuan 1 , Yilin Wang 1 , Simei Wang 1 , Chunmei Wang 1 , Chao Wang 1 , Longlong Lin 1 , Xiaona Luo 1 , Quanmei Xu 1 , Rongrong Yin 1 , Hongyi Cheng 1 , Yuanfeng Zhang 1 , Xiaomin Sun 1 , Jie Yang 1 , Jingbin Yan 2 , Fanyi Zeng 2 , Yucai Chen 3
更新日期：2020-06-06
Stem Cell Research ( IF 1.2 ) Pub Date : 2020-06-06 , DOI: 10.1016/j.scr.2020.101872 Anqi Wang 1 , Jiaming Xi 1 , Fang Yuan 1 , Yilin Wang 1 , Simei Wang 1 , Chunmei Wang 1 , Chao Wang 1 , Longlong Lin 1 , Xiaona Luo 1 , Quanmei Xu 1 , Rongrong Yin 1 , Hongyi Cheng 1 , Yuanfeng Zhang 1 , Xiaomin Sun 1 , Jie Yang 1 , Jingbin Yan 2 , Fanyi Zeng 2 , Yucai Chen 3
Affiliation
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.
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