Abstract
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.
Original language | English |
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Article number | 101376 |
Number of pages | 5 |
Journal | Stem Cell Research |
Volume | 34 |
DOIs | |
Publication status | Published - 1 Jan 2019 |
Keywords
- BLOOD
- Cell Line
- Cell Culture Techniques/methods
- Humans
- Adult
- Induced Pluripotent Stem Cells/pathology
- Child
- Muscular Atrophy, Spinal/pathology