Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A
- 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.
| Author of HS Reutlingen | Hübener-Schmid, Jeannette |
|---|---|
| URN: | urn:nbn:de:bsz:rt2-opus4-62208 |
| DOI: | https://doi.org/10.1016/j.scr.2018.06.006 |
| ISSN: | 1873-5061 |
| Published in: | Stem cell research |
| Publisher: | Elsevier |
| Place of publication: | Amsterdam |
| Document Type: | Journal article |
| Language: | English |
| Publication year: | 2018 |
| Volume: | 30 |
| Page Number: | 4 |
| First Page: | 171 |
| Last Page: | 174 |
| PPN: | Im Katalog der Hochschule Reutlingen ansehen |
| DDC classes: | 570 Biowissenschaften, Biologie |
| Open access?: | Ja |
| Licence (German): |  Creative Commons - CC BY - Namensnennung 4.0 International |
