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| Status |
Public on Jul 08, 2020 |
| Title |
Neuronal Defects in a Human Cellular Model of 22q11.2 Deletion Syndrome |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
22q11.2 deletion syndrome (22q11DS) is a common cause of developmental neuropsychiatric disorders, including psychosis, autism and epilepsy. This highly penetrant genetic syndrome provides a unique opportunity to mitigate the challenges raised by the heterogeneity of complex mental disorders and to identify specific neuronal phenotypes. Here, we generated induced pluripotent stem cells from subjects carrying a 3 Mb deletion at the 22q11.2 locus and from controls and differentiated these cells in vitro into three-dimensional organoid resembling the developing cerebral cortex. We performed single-cell RNA-sequencing to establish the reliability and reproducibility of cortical organoid differentiation in 22q11DS.
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| Overall design |
RNA sequencing of iPS cell-derived cortical spheroids from four human cell lines: two derived from subjects with 22q11.2 Deletion Syndrome and two control subjects.
**Submitter declares that raw data were not provided due to confidentiality concerns.**
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| |
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| Contributor(s) |
Khan T, Pasca S |
| Citation(s) |
32989314 |
| |
| Submission date |
Feb 11, 2020 |
| Last update date |
Jun 06, 2023 |
| Contact name |
Themasap Ahmad Khan |
| Organization name |
Stanford University
|
| Department |
Psychiatry
|
| Lab |
Pasca Lab
|
| Street address |
318 Campus Drive
|
| City |
Palo Alto |
| State/province |
CA |
| ZIP/Postal code |
94305 |
| Country |
USA |
| |
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| Platforms (1) |
| GPL24676 |
Illumina NovaSeq 6000 (Homo sapiens) |
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| Samples (4)
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| Relations |
| BioProject |
PRJNA606070 |
| SRA |
SRP248272 |
| SRA |
SRP271020 |
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