Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation
Summary
Fibroblasts isolated from an Amyotrophic Lateral Sclerosis (ALS)-patient carrying a mutation in Matrin-3 (p.Q66K -MATR3) gene were reprogrammed to the pluripotency stage by using non-integrating episomal plasmids. We generated the Q66K#44DRM induced pluripotent stem cell (iPSC) line that showed regular karyotype, expressed pluripotency-associated markers and were able to properly differentiate into the three germ layers. The heterozygous missense mutation in the MATR3 gene (p.Q66K), which is associated to ALS disease, was present in the generated iPSC line. Resource table. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Pollini D, Loffredo R, Cardano M, Conti L, Lattante S, Notarangelo A, Sabatelli M, Provenzani A |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 Dec;33:146-150 |
| PubMed | 30366341 |
| DOI | 10.1016/j.scr.2018.10.011 |