GEO series
RNA-seq of patient-derived glutamatergic neurons carrying Leigh Syndrome causing compound heterozygous mutations in the SURF1 gene treated with Omaveloxolone.
GSE306153
Homo sapiens (human)
RNA-seq (gene expression)
24 samples
Submitted 2026/08/01
Platform GPL34284
At a glance
RNA-seq (gene expression) · human · 24 samples
- What it is
- RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
- Organism
- Homo sapiens (human)
- Samples
- 24 samples: 8 conditions, mostly in triplicateGroups are read from the sample names, not from the paper. Check the list below.
- Data you can get
- A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Summary (written by the submitters)
Leigh Syndrome (LS) is a rare, progressive mitochondrial encephalopathy that manifests in infancy or early childhood and is characterized by neurodevelopmental regression, brainstem and basal ganglia lesions, and premature mortality. At the molecular level, LS is driven by mutations that impair oxidative phosphorylation (OXPHOS), disrupting energy production in metabolically active tissues such as the brain, heart, and muscle.
Read the full summary ↓
Among these, mutations in SURF1—a nuclear gene essential for cytochrome c oxidase (COX, Complex IV) assembly—are among the most common causes of nuclear-encoded LS. Omaveloxolone, an FDA-approved Nrf2 activator for Friedreich’s Ataxia, has recently gained attention for its neuroprotective properties across a range of preclinical models. Treatment of patient neurons with omaveloxolone promoted neurite outgrowth, and activated PINK1/PRKN-mediated mitophagy. Functionally, omaveloxolone reduced neuronal hyperexcitability and apoptosis, and normalized aberrant synaptic pathway activity via deactivation of the SNARE complex.
This dataset
Download · which file do I need?
Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.
1 · Just have a look
Processed table
The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.
2 · Re-analyse it
Supplementary files
The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE306153_RAW.tar (it can run to tens of gigabytes).
3 · Start from the raw reads
Raw sequencing reads
The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.
What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.
Also filed as BioProject PRJNA1309595 and SRA study SRP610696. Searching any of these in the dataset finder brings you back here.
Study design
8 conditions, mostly in triplicate
Neurons derived from familial control iPSC ce… ×3
Neurons derived from familial control iPSC ce… ×3
Neurons derived from familial control iPSC ce… ×3
Neurons derived from familial control iPSC ce… ×3
Neurons derived from patient iPSC cells treat… ×3
Neurons derived from patient iPSC cells treat… ×3
Neurons derived from patient iPSC cells treat… ×3
Neurons derived from patient iPSC cells treat… ×3
Supports a between-group comparison across 24 samples.
How we read this: 8 replicated groups read from 24 sample titles; they account for 24 of them. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.
Samples in this study
- GSM9194141 Neurons derived from familial control iPSC cells treated with DMSO replicate 1 Neurons derived from fa…
- GSM9194142 Neurons derived from familial control iPSC cells treated with DMSO replicate 2 Neurons derived from fa…
- GSM9194143 Neurons derived from familial control iPSC cells treated with DMSO replicate 3 Neurons derived from fa…
- GSM9194144 Neurons derived from familial control iPSC cells treated with 125 nM Omaveloxolone replicate 1 Neurons derived from fa…
- GSM9194145 Neurons derived from familial control iPSC cells treated with 125 nM Omaveloxolone replicate 2 Neurons derived from fa…
- GSM9194146 Neurons derived from familial control iPSC cells treated with 125 nM Omaveloxolone replicate 3 Neurons derived from fa…
- GSM9194147 Neurons derived from familial control iPSC cells treated with 250 nM Omaveloxolone replicate 1 Neurons derived from fa…
- GSM9194148 Neurons derived from familial control iPSC cells treated with 250 nM Omaveloxolone replicate 2 Neurons derived from fa…
- GSM9194149 Neurons derived from familial control iPSC cells treated with 250 nM Omaveloxolone replicate 3 Neurons derived from fa…
- GSM9194150 Neurons derived from familial control iPSC cells treated with 500 nM Omaveloxolone replicate 1 Neurons derived from fa…
- GSM9194151 Neurons derived from familial control iPSC cells treated with 500 nM Omaveloxolone replicate 2 Neurons derived from fa…
- GSM9194152 Neurons derived from familial control iPSC cells treated with 500 nM Omaveloxolone replicate 3 Neurons derived from fa…
- GSM9194153 Neurons derived from patient iPSC cells treated with DMSO replicate 1 Neurons derived from pa…
- GSM9194154 Neurons derived from patient iPSC cells treated with DMSO replicate 2 Neurons derived from pa…
- GSM9194155 Neurons derived from patient iPSC cells treated with DMSO replicate 3 Neurons derived from pa…
- GSM9194156 Neurons derived from patient iPSC cells treated with 125 nM Omaveloxolone replicate 1 Neurons derived from pa…
- GSM9194157 Neurons derived from patient iPSC cells treated with 125 nM Omaveloxolone replicate 2 Neurons derived from pa…
- GSM9194158 Neurons derived from patient iPSC cells treated with 125 nM Omaveloxolone replicate 3 Neurons derived from pa…
- GSM9194159 Neurons derived from patient iPSC cells treated with 250 nM Omaveloxolone replicate 1 Neurons derived from pa…
- GSM9194160 Neurons derived from patient iPSC cells treated with 250 nM Omaveloxolone replicate 2 Neurons derived from pa…
- GSM9194161 Neurons derived from patient iPSC cells treated with 250 nM Omaveloxolone replicate 3 Neurons derived from pa…
- GSM9194162 Neurons derived from patient iPSC cells treated with 500 nM Omaveloxolone replicate 1 Neurons derived from pa…
- GSM9194163 Neurons derived from patient iPSC cells treated with 500 nM Omaveloxolone replicate 2 Neurons derived from pa…
- GSM9194164 Neurons derived from patient iPSC cells treated with 500 nM Omaveloxolone replicate 3 Neurons derived from pa…
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Share this dataset
Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.