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Status |
Public on Jul 10, 2016 |
Title |
Evidence for proliferation and synaptogenesis impairments in neural cells derived from idiopathic autistic patients |
Organism |
Homo sapiens |
Experiment type |
Expression profiling by high throughput sequencing
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Summary |
Reprogramming of human somatic cells to a pluripotent state (induced pluripotent stem cells or iPSC) has provided an exciting opportunity to produce relevant cellular models of human complex neurogenetic diseases. Here we show the generation and characterization of iPSC lines from 8 sporadic ASD patients with early brain overgrowth and 5 age/gender-matched control lines. These cells were used to derive neural progenitor cells and neurons in culture. We reveal molecular and phenotypic evidence that both cell proliferation and synaptogenesis are affected in this model system. Specifically, we detected altered cell cycle and altered levels of excitatory and inhibitory markers in neural cells at early stages of differentiation. This work demonstrates that in a heterogeneous condition such as ASD, selection of subjects based on phenotype can improve power to detect biologically relevant pathway disruption that may help guide development of novel therapies.
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Overall design |
mRNA profiles of iPSC-derived neural progenitors and neurons from 8 sporadic ASD patients with early brain overgrowth and 5 age/gender-matched controls
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Contributor(s) |
Marchetto MC, Belinson H, Tian Y, Beltrao-Braga P, Trujillo C, Mendes A, Nunez Y, Ou J, Gosh H, Brennand K, Pierce K, Pramparo T, Eyler L, Barnes CC, Courchesne E, Gage FH, Geschwind DH, Wynshaw-Boris A, Muotri AR |
Citation(s) |
27378147 |
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Submission date |
Apr 02, 2015 |
Last update date |
May 15, 2019 |
Contact name |
Daniel H. Geschwind |
Organization name |
UCLA
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Department |
Neurology
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Lab |
Geschwind Lab
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Street address |
2309 Gonda Bldg, 695 Charles E. Young Dr. South
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City |
Los Angeles |
State/province |
California |
ZIP/Postal code |
90095-1761 |
Country |
USA |
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Platforms (1) |
GPL11154 |
Illumina HiSeq 2000 (Homo sapiens) |
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Samples (83)
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Relations |
BioProject |
PRJNA280163 |
SRA |
SRP056822 |
Supplementary file |
Size |
Download |
File type/resource |
GSE67528_Processed_data_htseqcount_83samples.txt.gz |
2.7 Mb |
(ftp)(http) |
TXT |
SRA Run Selector |
Raw data are available in SRA |
Processed data are available on Series record |
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