Generation of a human induced pluripotent stem cell line (LZUSHi002-A) from a MADD patient with ETFDH mutation

Summary

Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is an inborn metabolic disorder that affects fatty acid oxidation and the catabolism of branched-chain amino acids, vitamins B and energy metabolism. In this study, the induced pluripotent stem cell (iPSC) line LZUSHi002-A from PBMCs of a 10-year-old male patient with ETFDH mutations using the episomal plasmids was established, which is an ideal in vitro model to understand the exact pathogenesis of MADD. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Li Y, Li Y, Liu H, Cheng L, Ma H, Xu X, Zhang N
Journal Stem cell research
Publication Date 2022 Sep 14;64:102914
PubMed 36162333
DOI 10.1016/j.scr.2022.102914

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