Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A
Summary
A skin biopsy of a patient with spinocerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease (MJD)) caused by a CAG trinucleotide repeat expansion in the ATXN3 gene, was used to generate an induced pluripotent stem cell line, HIHCNi002-A (iPSC-SCA3). Skin fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC, and hLIN28. The iPSC-SCA3 line exhibits chromosomal stability with conservation of the ATXN3 repeat expansion, expresses pluripotency markers and differentiates into endo-, meso-, and ectodermal cells in vitro. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Hayer SN, Schelling Y, Huebener-Schmid J, Weber JJ, Hauser S, Schöls L |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 Jul;30:171-174 |
| PubMed | 29936336 |
| DOI | 10.1016/j.scr.2018.06.006 |