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


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

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