Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

RNA sequencing of Timothy syndrome human cortical and subpalial organoids

ABSTRACT: RNA sequencing of Timothy syndrome human cortical and subpalial organoids

PROVIDER: PRJNA734273 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

RNA sequencing of Timothy syndrome human cortical and subpalial organoids

Project description:We derived iPSC from individuals with Timothy syndorme and controls and differentiated them into 3D cortical and subpalial organoids.

2021-10-20 | GSE175898 | GEO

22q11.2 deletion syndrome human cortical organoids

Project description:22q11.2 deletion syndrome human cortical organoids

| PRJNA595613 | ENA

22q11.2 deletion syndrome human cortical organoids

Project description:We derived iPSC from individuals carrying a 22q11.2 deletion and controls and differentiated them into 3D cortical organoids.

2020-07-08 | GSE142041 | GEO

Lis1 in human cortical organoids

Project description:Lysate analysis of WT or Lis1-mutant human cortical organoids

2025-03-11 | PXD040813 | Pride

EVOLUTION OF THE LIPIDOME UNCOVERS EARLY CHANGES IN ADRENOLEUKODYSTROPHY HUMAN CORTICAL AND SPINAL ORGANOIDS

Project description:<p>Lipids are critical for the structure, signaling, and metabolism of the central nervous system (CNS), yet their roles during human brain development remain underexplored due to limited tissue availability. X-linked adrenoleukodystrophy (ALD), a peroxisomal disorder caused by ABCD1 mutations, disrupts very long-chain fatty acid (VLCFA) degradation, leading to axonal degeneration and demyelination. To investigate lipid dynamics in CNS development and ALD pathogenesis, we generated human induced pluripotent stem cell (hiPSC)-derived cortical and spinal cord organoids and performed lipidomics over 200 days. Lipidomic analysis revealed a dynamic lipidome, with changes in lipid abundance, saturation, and chain length reflecting neurodevelopment. ALD hiPSC-derived organoids exhibited significant lipid alterations over time, including elevated VLCFA levels and reductions in brain-relevant lipids, such as sulfatides and gangliosides, in cortical organoids. These findings provide a foundational resource for studying lipid dynamics in CNS development and emphasize the value of organoids for understanding ALD and other CNS diseases.</p>

2025-11-17 | MTBLS12973 | MetaboLights

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

Project description:Monogenic neurodevelopmental disorders provide key insights into the pathogenesis of disease and help us understand how specific genes control the development of the human brain. Timothy syndrome is caused by a missense mutation in the L-type calcium channel Cav1.2 that is associated with developmental delay and autism. We generated cortical neuronal precursor cells and neurons from induced pluripotent stem cells derived from individuals with Timothy syndrome. Cells from these individuals have defects in calcium (Ca2+) signaling and activity-dependent gene expression and show abnormalities in differentiation. Neurons from individuals with Timothy syndrome show increased expression of markers of the upper cortical layer and decreased expression of callosal projection markers. In addition, the mutation that causes Timothy syndrome leads to an increase in the production of neurons that synthesize norepinephrine and dopamine. This phenotype can be reversed by treatment with roscovitine, a cyclin-dependent kinase and atypical L-type–channel blocker. These findings provide strong evidence that Cav1.2 regulates the differentiation of cortical neurons in humans and offer new insights into the causes of autism in individuals with Timothy syndrome.

2011-11-07 | GSE25542 | GEO

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

2011-11-07 | E-GEOD-25542 | biostudies-arrayexpress

RNA sequencing of Human Cortical Organoids diffrentiated for extended periods of time

Project description:Assesing gene expression in human cortical organoids during long term (>600 days) maturation.

2020-12-25 | GSE150123 | GEO

Human cortical organoids. Chronic treatment with GSK3 inhibitor CHIR99021. Bulk RNAseq.

Project description:Here we used human cortical brain organoids to probe the longitudinal impact of GSK3 inhibition through multiple developmental stages. Chronic GSK3 inhibition increased the proliferation of neural progenitors and caused massive derangement of cortical tissue architecture. Cortical organoids were differentiated as previously described (Paşca et al., 2015, doi: 10.1038/nmeth.3415.).Chronic GSK3 inhibition was performed by adding CHIR99021 (Merck SML1046) to the medium at day 0 (1 microM) and kept throughout the differentiation process until reaching the respective collection timepoints (day 18, day 50, day 100).

2020-06-04 | E-MTAB-8325 | biostudies-arrayexpress

Single cell RNA sequencing of human cortical organoids integrated with kirigami electronics.

Project description:We integrated human cortical organoids with kirigami electronics. We used single cell RNA sequencing to analyze how the integration affects corticogenesis.

2023-11-22 | GSE221032 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data