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| Status |
Public on Mar 21, 2024 |
| Title |
Inter-chromosomal contacts of the 16p11.2 locus connect with gene expression changes of Pcdh genes in autism spectrum disorder |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by high throughput sequencing
Other
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| Summary |
Differentiation experiment of mouse embryonic stem cells (ESCs) to neuronal precursor (NPC) and immature dopaminergic neurons (NEU) commited to ventral midbrain lineage. Controls and mutant cell lines harboring heterozygous deletion (del) or duplication-deletion (dupdel) of 7qF3 locus which is synteny conserved with human 16p11.2 locus. Mice harbouring CNVs in this locus display behavioural phenotypes and distinct changes in brain architecture resembling ASD-like traits. Mouse models are described in Guy Horev et al., 2011 (doi: 10.1073/pnas.1114042108). Samples with same numeric identifier were differentiated in parallel.
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| Overall design |
RNA-seq and Hi-C on controls and mutant cell lines harboring heterozygous deletion (del) or duplication-deletion (dupdel) of 7qF3 locus. Cell types include embronic stem cells, neuronal progenitor cells, dopaminergic neurons.
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| Contributor(s) |
Rieke K, Dominik S, Kukalev A, Slimak-Mastruoboni M, Ramirez J, Thieme C, Pombo A |
| Citation missing |
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| Submission date |
Mar 19, 2020 |
| Last update date |
Mar 21, 2024 |
| Contact name |
Ana Pombo |
| E-mail(s) |
Ana.Pombo@mdc-berlin.de
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| Organization name |
Max Delbrueck Center for Molecular Medecine
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| Street address |
Hannoversche Strasse 28
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| City |
Berlin |
| ZIP/Postal code |
10115 |
| Country |
Germany |
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| Platforms (1) |
| GPL19057 |
Illumina NextSeq 500 (Mus musculus) |
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| Samples (34)
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| Relations |
| BioProject |
PRJNA613480 |
| SRA |
SRP253367 |
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