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| Status |
Public on Jan 17, 2020 |
| Title |
Expression data from SCA3 and genetically corrected iPSCs |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
The neurodegenerative disease spinocerebellar ataxia type 3 (SCA3; also called Machado-Joseph disease, MJD) is a trinucleotide repeat disorder caused by expansion of CAG repeats which encoding an abnormal long polyglutamine (polyQ) tract in ataxin-3 of the ATXN3 gene. Even now the pathogenic mechanism has remained elusive and no cure method is currently available.
In this study, we first applied CRISPR/Cas9-mediated approach using homologous recombination to achieve one-step genetic correction in SCA3-specific induced pluripotent stem cells (iPSCs) by adjusting pathological 80 CAG repeats to normal 13 CAG repeats, without detectable off-target based on whole exon sequencing or polyacrylamide gel electrophoresis (PAGE). The correction normalized SCA3 pathogenic signal pathways (like transcription, apoptosis, and ubiquitin-dependent protein catabolic process) and reversed disease-associated phenotypes. Our strategy provides deep insights into pathogenic mechanism of SCA3 disease and suggests potential therapeutic applications of trinucleotide repeat disorders.
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| Overall design |
6 experimental samples were used overall. There were 3 replicates per group, with one group being the control (SCA3 iPSCs), and the other being the experimental (corrected iPSCs).
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| Contributor(s) |
Song G, Tian Y |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Jan 17, 2017 |
| Last update date |
Jan 18, 2020 |
| Contact name |
Guoxu Song |
| E-mail(s) |
381966452@qq.com
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| Organization name |
Institute of Biophysics, Chinese Academy of Science
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| Street address |
No. 15, Datun Road, Chaoyang District, Beijing
|
| City |
Beijing |
| ZIP/Postal code |
100101 |
| Country |
China |
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| Platforms (1) |
| GPL17586 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version] |
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| Samples (6)
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| Relations |
| BioProject |
PRJNA362191 |
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