Generation of an induced pluripotent stem cell JTUi005-A from a patient with neuronal intranuclear inclusion disease

Summary

Neuronal intranuclear inclusion disease is a neurodegenerative disease caused by expansion of GGC repeats in the 5' untranslated region (5' UTR) of NOTCH2NLC. An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 55-year-old male patient by expressing a defined set of reprogramming factors (OCT4, SOX2, NANOG, LIN28, c-MYC and KLF4) carried on episomal vectors, and was validated for stem cell-like pluripotency, normal karyotype and capability of in vivo differentiation into three germ layers. The NIID-iPSC line serves as a promising tool for further research into pathogenic mechanism and potential therapeutic targets. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Cao Y, Tian W, Cao L, Lv W, Zheng L, Luan X
Journal Stem cell research
Publication Date 2022 Oct 10;65:102938
PubMed 36244083
DOI 10.1016/j.scr.2022.102938

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