Аннотация
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.
Язык оригинала | английский |
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Номер статьи | 101376 |
Число страниц | 5 |
Журнал | Stem Cell Research |
Том | 34 |
DOI | |
Состояние | Опубликовано - 1 янв. 2019 |