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GEO help: Mouse over screen elements for information. |
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| Status |
Public on Oct 25, 2012 |
| Title |
Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects. |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Multiple FTD patient-specific iPSC lines were generated for the first time, Human neurons of progranulin haploinsufficiency have been established.
PGRN S116X neurons are more sensitive to kinase inhibitors-induced cell stress, which can be rescued by ectopic progranulin expression, revealing progranulin-dependent cellular defects in FTD. Microarray analysis reveals that the serine/threonine kinase S6K2 (RPS6KB2) and other genes involved in MAPK signaling are dysregulated specifically in neurons with progranulin deficiency.
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| Overall design |
32 independent human neuronal cultures were analyzed in this study
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| Contributor(s) |
Almeida S, Zhang Z, Coppola G, Mao W, Futai K, Karydas A, Geschwind MD, Tartaglia MC, Gao F, Gianni D, Sena-Esteves M, Geschwind DH, Miller BL, Farese RV Jr, Gao F |
| Citation(s) |
23063362 |
| Submission date |
Aug 24, 2012 |
| Last update date |
Aug 13, 2018 |
| Contact name |
Giovanni Coppola |
| E-mail(s) |
gcoppola@ucla.edu
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| Phone |
310-794-4172
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| Organization name |
UCLA
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| Department |
Psychiatry and Neurology
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| Lab |
Neurogenetics
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| Street address |
1524 Gonda, 695 Charles Young Drive South
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| City |
Los Angeles |
| State/province |
CA |
| ZIP/Postal code |
90095 |
| Country |
USA |
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| Platforms (1) |
| GPL10558 |
Illumina HumanHT-12 V4.0 expression beadchip |
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| Samples (32)
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| Relations |
| BioProject |
PRJNA173801 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE40378_RAW.tar |
26.2 Mb |
(http)(custom) |
TAR |
| GSE40378_non_normalized.txt.gz |
5.8 Mb |
(ftp)(http) |
TXT |
| Processed data included within Sample table |
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