Generation of an induced pluripotent stem cell line (SHCDNi003-A) from a one-year-old Chinese Han infant with Allan–Herndon–Dudley syndrome

Anqi Wang; Jiaming Xi; Fang Yuan; Yilin Wang; Simei Wang; Chunmei Wang; Chao Wang; Longlong Lin; Xiaona Luo; Quanmei Xu; Rongrong Yin; Hongyi Cheng; Yuanfeng Zhang; Xiaomin Sun; Jie Yang; Jingbin Yan; Fanyi Zeng; Yucai Chen

Stem Cell Research (Jul 2020)

Generation of an induced pluripotent stem cell line (SHCDNi003-A) from a one-year-old Chinese Han infant with Allan–Herndon–Dudley syndrome

Anqi Wang,
Jiaming Xi,
Fang Yuan,
Yilin Wang,
Simei Wang,
Chunmei Wang,
Chao Wang,
Longlong Lin,
Xiaona Luo,
Quanmei Xu,
Rongrong Yin,
Hongyi Cheng,
Yuanfeng Zhang,
Xiaomin Sun,
Jie Yang,
Jingbin Yan,
Fanyi Zeng,
Yucai Chen

Affiliations

Anqi Wang: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Jiaming Xi: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Fang Yuan: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Yilin Wang: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Simei Wang: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Chunmei Wang: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Chao Wang: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Longlong Lin: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Xiaona Luo: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Quanmei Xu: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Rongrong Yin: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Hongyi Cheng: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Yuanfeng Zhang: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Xiaomin Sun: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Jie Yang: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Jingbin Yan: NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200040, China
Fanyi Zeng: NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200040, China
Yucai Chen: 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; Corresponding author at: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China.

Journal volume & issue: Vol. 46
p. 101872

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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