Generation of two spinal muscular atrophy (SMA) type I patient-derived induced pluripotent stem cell (iPSC) lines and two SMA type II patient-derived iPSC lines
Summary
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletion or mutation in SMN1 gene. SMA human induced pluripotent stem cells (iPSCs) represent a useful and valid model for the study of the disorder, as they provide in vitro the target cells. We generated iPSCs from a SMA type I patient and SMA type II patient by using non-integrating episomal plasmid vectors. The resulting iPSCs are episomal-free, express pluripotency markers, display a normal karyotype, retain the mutation (homozygous deletion of SMN1) and are able to differentiate into the three germ layers. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Valetdinova KR, Maretina MA, Kuranova ML, Grigor'eva EV, Minina YM, Kizilova EA, Kiselev AV, Medvedev SP, Baranov VS, Zakian SM |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2019 Jan;34:101376 |
| PubMed | 30660867 |
| DOI | 10.1016/j.scr.2018.101376 |