Generation of a human induced pluripotent stem cell line harboring heteroplasmic m.3243A > G mutation in MT-TL1 gene
Summary
Mitochondrial diseases are disorders caused primarily by mutations in mitochondrial DNA, with the mitochondrial 3243A > G (m.3243A > G) mutation being one of the most common pathogenic mutations. Here, a pluripotent stem cell line with high m.3243A > G mutation load was generated by reprogramming the skin fibroblasts from a patient with mitochondrial disease. This cell line exhibited pluripotency, multilineage differentiation potential and normal karyotype, representing a valuable cell resource for studying the pathogenesis of mitochondrial diseases and screening drugs. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Song M, Chen S, Zhang M, Hu S, Lei W, Yu M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Jun;77:103387 |
| PubMed | 38489977 |
| DOI | 10.1016/j.scr.2024.103387 |