Generation of a Human iPSC (ICSSUi002-A) with MTHFR SNP (rs1801133, TT) from Thoracic Aortic Dissection Patient


Thoracic aortic dissection is a devastating cardiovascular disease with an increasing annual incidence. The homozygous mutation in rs1801133 site has been accepted for decreased enzyme activity of mutant MTHFR protein, contributing to an accumulated homocysteine in blood. Recently, elevated homocysteine level is causally associated with an increased risk of cardiovascular disease. Conversely, the relationship between rs1801133 and thoracic aortic dissection is poorly understood. Here, the generated human induced pluripotent stem cell (iPSC) line provided a novel strategy for investigating the underlying mechanism of MTHFR mutation (rs1801133, TT) and its implication in the pathogenesis of thoracic aortic dissection. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Zhu J, Chen Y, Cao X, Li Q, Shao L, Teng X, Yu Y, Shen Z
Journal Stem cell research
Publication Date 2022 May;61:102753
PubMed 35305471
DOI 10.1016/j.scr.2022.102753

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