Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11
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- Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11
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Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by an expansion of the CAG-repeat in ATXN3. In this study, induced pluripotent stem cells (iPSCs) were generated from SCA3 patient dermal fibroblasts by electroporation with episomal plasmids encoding L-MYC, LIN28, SOX2, KLF4, OCT4 and short hairpin RNA targeting P53. The resulting iPSCs had normal karyotype, were free of integrated episomal plasmids, expressed pluripotency markers, could differentiate into the three germ layers in vitro and retained the disease-causing ATXN3 mutation. Potentially, this iPSC line could be a useful tool for the investigation of SCA3 disease mechanisms.
Originalsprog | Engelsk |
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Tidsskrift | Stem Cell Research |
Vol/bind | 16 |
Udgave nummer | 3 |
Sider (fra-til) | 589-592 |
Antal sider | 4 |
ISSN | 1873-5061 |
DOI | |
Status | Udgivet - maj 2016 |
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