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

doi:10.1016/j.scr.2020.101872

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 Res. 2020 Jul:46:101872. doi: 10.1016/j.scr.2020.101872. Epub 2020 Jun 6.

Authors

Anqi Wang¹, Jiaming Xi¹, Fang Yuan¹, Yilin Wang¹, Simei Wang¹, Chunmei Wang¹, Chao Wang¹, Longlong Lin¹, Xiaona Luo¹, Quanmei Xu¹, Rongrong Yin¹, Hongyi Cheng¹, Yuanfeng Zhang¹, Xiaomin Sun¹, Jie Yang¹, Jingbin Yan², Fanyi Zeng², Yucai Chen³

Affiliations

¹ Department of Neurology, Shanghai Children's Hospital, Shanghai JiaoTong University, Shanghai 200062, China.
² NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200040, China.
³ 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. Electronic address: chenyc@shchildren.com.cn.

PMID: 32603881
DOI: 10.1016/j.scr.2020.101872

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

China
Humans
Induced Pluripotent Stem Cells*
Infant
Leukocytes, Mononuclear
Male
Mental Retardation, X-Linked
Monocarboxylic Acid Transporters
Muscle Hypotonia
Muscular Atrophy
Symporters*

Substances

Monocarboxylic Acid Transporters
SLC16A2 protein, human
Symporters

Supplementary concepts

Allan-Herndon-Dudley syndrome