Generation of an induced pluripotent stem cell line (OGHFUi001-A) from a type 1 early infantile epileptic encephalopathy with ARX mutation


Type 1 early infantile epileptic encephalopathy (EIEE1) is a severe early-onset epileptic encephalopathy with arrest of psychomotor development caused by hemizygous mutations in the ARX gene, which encodes a transcription factor in fundamental brain developmental processes. A human induced pluripotent stem cell (iPSC) line, termed as OGHFUi001-A, was generated using non-integrating episomal vector technique from peripheral blood mononuclear cells (PBMCs) of a 7-year-old male EIEE1 patient, who had a hemizygous (c.989G > T: p.R330L) mutation in the ARX gene. OGHFUi001-A offers a useful cell resource to investigate pathogenic mechanisms in EIEE1, as well as a cell-based model for drug development for EIEE1. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Jia N, Gong X, Chen J, Yang T, Bao C, Shen J, Xiao X
Journal Stem cell research
Publication Date 2021 May;53:102367
PubMed 34087996
DOI 10.1016/j.scr.2021.102367

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