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Growing iPSC-derived neuronal precursor cells (NPCs) of MT-ATP6 patients and of normal controls under physiological glucose concentrations of 4.5 mM with and without 1 µM or 10 µM Sildenafil for 6 or 24 hours.

GSE300610 Homo sapiens (human) RNA-seq (gene expression) 192 samples Submitted 2025/12/31 Platform GPL23227
At a glance

RNA-seq (gene expression) · human · 192 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
192 samples: 64 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)
Mitochondrial diseases are a group of rare inherited disorders that affect mitochondrial function. A severe untreatable form of mitochondrial disease is Leigh syndrome (LS), which is characterized by psychomotor regression and acute metabolic crises during which patients quickly deteriorate. To accelerate drug discovery for mitochondrial diseases, we focused on drug repurposing and used induced pluripotent stem cell (iPSC)-derived neuronal precursor cells (NPCs) from LS patients to screen a library of 5,632 repurposable compounds.
Read the full summary ↓
We identified phosphodiesterase 5 inhibitors (PDE5i) as leads capable of normalizing mitochondrial polarization in NPCs of LS patients. Among the PDE5i, we prioritized Sildenafil due to its established safety profile in children and adults. Sildenafil restored key pathways regulating nervous system development, enhanced neurite outgrowth in LS neurons, and mitigated abnormal calcium responses in LS brain organoids under metabolic stress. Chronic off-label compassionate treatment of six LS patients with Sildenafil showed good tolerability and clear clinical improvements. Our findings highlight the potential of iPSC-driven drug discovery for rare diseases and position Sildenafil as a promising drug candidate for patients with mitochondrial diseases.
This dataset
Open GSE300610 in finder → Find more human RNA-seq datasets →
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.

Series matrix ↓
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 GSE300610_RAW.tar (it can run to tens of gigabytes).

All supplementary files ↗ Whole study · RAW.tar ↓
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.

Raw reads on ENA ↗

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 PRJNA1281545 and SRA study SRP594305. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗
Study design
64 conditions, mostly in triplicate
NPC cells, BIHi267-B, MILS patient, 10 µM Sil… ×3 NPC cells, BIHi267-B, MILS patient, 10 µM Sil… ×3 NPC cells, BIHi267-B, MILS patient, 1 µM Sild… ×3 NPC cells, BIHi267-B, MILS patient, 1 µM Sild… ×3 NPC cells, BIHi267-B, MILS patient, untreated… ×3 NPC cells, BIHi267-B, MILS patient, untreated… ×3 NPC cells, BIHi267-B, MILS patient, vehicle [… ×3 NPC cells, BIHi267-B, MILS patient, vehicle [… ×3 +56 more

Supports a between-group comparison across 192 samples.

How we read this: 64 replicated groups read from 192 sample titles; they account for 192 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

+ 152 more — browse all 192 samples with per-sample file links →

Datasets on a similar topic

Search all human RNA-seq datasets in GEO →

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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.