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Stem Cell Res. 2019 Jan;34:101376. doi: 10.1016/j.scr.2018.101376. Epub 2019 Jan 11.

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.

Author information

1
Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia; Institute of Chemical Biology and Fundamental Medicine, Novosibirsk, Russia; E.N. Meshalkin National Medical Research Centre, Ministry of Healthcare of Russian Federation, Novosibirsk, Russia; National Research University Novosibirsk State University, Novosibirsk, Russia.
2
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia; Saint Petersburg State University, Saint Petersburg, Russia.
3
Institute of Cytology, Saint Petersburg, Russia.
4
Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia.
5
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia.
6
Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia; Institute of Chemical Biology and Fundamental Medicine, Novosibirsk, Russia; E.N. Meshalkin National Medical Research Centre, Ministry of Healthcare of Russian Federation, Novosibirsk, Russia; National Research University Novosibirsk State University, Novosibirsk, Russia. Electronic address: zakian@bionet.nsc.ru.

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.

PMID:
30660867
DOI:
10.1016/j.scr.2018.101376
[Indexed for MEDLINE]
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