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


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Wang A, Xi J, Yuan F, Wang Y, Wang S, Wang C, Wang C, Lin L, Luo X, Xu Q, Yin R, Cheng H, Zhang Y, Sun X, Yang J, Yan J, Zeng F, Chen Y
Journal Stem cell research
Publication Date 2020 Jul;46:101872
PubMed 32603881
DOI 10.1016/j.scr.2020.101872

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