|
| Status |
Public on Jun 03, 2021 |
| Title |
Molecular signature of Schinzel-Giedion syndrome in human neural progenitors |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
Schinzel-Giedion syndrome (SGS) is a developmental syndrome, due to the accumulation of SETBP1 protein, which is fatal in early infancy. SGS has a multi-organ involvement with severe and persistent intellectual and physical problems. We produced a human SGS model that outlines disease-relevant phenotypes using patient-derived induced pluripotent stem cells and isogenic controls. Whole transcriptome profiling describes cancer-like alterations in SGS neural progenitors including deregulation of oncogenes and suppressors and enhanced proliferation. These findings demonstrated how SGS post-natal pathological traits mayhave developmental origin in the failure of controlling cell identity and homeostasis due to SETBP1 protein accumulation.
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| |
|
| Overall design |
3x SETBP1 D868D NPCs, 3x SETBP1 D868N NPCs, 3x SETBP1 I871T NPCs
|
| |
|
| Contributor(s) |
Sessa A, Banfi F, Massimino L, Broccoli V |
| Citation(s) |
34193871 |
| Submission date |
May 18, 2020 |
| Last update date |
Jul 27, 2021 |
| Contact name |
Luca Massimino |
| E-mail(s) |
admin@lucamassimino.com
|
| Phone |
3389039500
|
| Organization name |
Ospedale San Raffaele
|
| Department |
Gastroenterology
|
| Street address |
Via Olgettina, 58
|
| City |
Milano |
| State/province |
MI |
| ZIP/Postal code |
20100 |
| Country |
Italy |
| |
|
| Platforms (1) |
| GPL21290 |
Illumina HiSeq 3000 (Homo sapiens) |
|
| Samples (9)
|
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| This SubSeries is part of SuperSeries: |
| GSE171266 |
SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome |
|
| Relations |
| BioProject |
PRJNA633713 |
| SRA |
SRP262244 |
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