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 Oct;64:102914 |
| PubMed | 36162333 |
| DOI | 10.1016/j.scr.2022.102914 |