Establishment of an induced pluripotent stem cell line from a patient with hereditary transthyretin amyloidosis carrying transthyretin (TTR) mutation p.Phe53Val


Hereditary transthyretin amyloidosis (ATTR) is an autosomal dominant rare disease caused by heterozygous mutations in the TTR gene, which encodes depolymerized transthyretin deposited in several organs. An induced pluripotent stem cell (iPSC) line of ATTR was generated from peripheral blood mononuclear cells of a 28 years old male patient carrying the TTR mutation p.Phe53Val. We used non-integrated episomal vectors to achieve the reprogramming of PBMCs, and further proved pluripotency by expression of typical stemness surface markers, gene expression of pluripotency genes and the pathological evidence of teratoma forming three germ layers in vivo. This iPSC line is a useful cellular model for screening potential therapeutic targets and studying the pathogenic mechanism of disease. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Shan H, Ye J, Hai Ping X, XinYue H, ShuYang Z
Journal Stem cell research
Publication Date 2020 Oct;48:101940
PubMed 32858486
DOI 10.1016/j.scr.2020.101940

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