Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11
Summary
Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a CAG-repeat expanding mutation in ATXN3. We generated induced pluripotent stem cells (iPSCs) from a SCA3 patient by electroporation of dermal fibroblasts 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 genomically integrated episomal plasmids, expressed pluripotency markers, could differentiate into the three germ layers in vitro and retained the disease-causing ATXN3 mutation. This iPSC line could be useful for the investigation of SCA3 disease mechanisms. Copyright © 2016 Roslin Cells Ltd. Published by Elsevier B.V. All rights reserved.
| Authors | Hansen SK, Borland H, Hasholt LF, Tümer Z, Nielsen JE, Rasmussen MA, Nielsen TT, Stummann TC, Fog K, Hyttel P |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2016 May;16(3):553-6 |
| PubMed | 27346190 |
| DOI | 10.1016/j.scr.2016.02.040 |