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Non-viral in situ gene editing effectively and safely rescues congenital ichthyosis-causing mutations in human skin

GSE314473 Homo sapiens (human) RNA-seq (gene expression) 12 samples Submitted 2026/01/26 Platform GPL24676
At a glance

RNA-seq (gene expression) · human · 12 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
12 samples: 5 conditions, mostly in duplicateGroups 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)
Autosomal recessive congenital ichthyosis (ARCI) comprises a heterogeneous group of rare, severe genodermatoses that profoundly reduce patients’ quality of life and for which no curative therapies are currently available. In this study, we demonstrate clinically relevant in situ correction of the most prevalent ARCI-associated mutation, TGM1 c.877-2A>G, a pathogenic splice-site variant, using human disease models.
Read the full summary ↓
Transient modulation of the skin barrier followed by topical delivery of the cytosine base editor eTD encapsulated in lipid nanoparticles resulted in restoration of approximately 30% of wild-type transglutaminase 1 activity in treated skin tissue. Repeated dosing was well tolerated and revealed an excellent safety profile, with no evidence of systemic exposure to either the lipid nanoparticles or the genetic payload, as confirmed by highly sensitive analyses including desorption electrospray ionization (DESI) metabolic imaging. Together, these data provide a comprehensive preclinical framework supporting the feasibility of in situ gene correction for genodermatoses and highlight its potential to enable curative, next-generation therapies for severe inherited skin disorders.
This dataset
Open GSE314473 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 GSE314473_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 PRJNA1391374. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗
Study design
5 conditions, mostly in duplicate
human skin cells treated with EGFP mRNA-loade… ×4 human keratinocytes from ARCI patient treated… ×2 human keratinocytes from ARCI patient, ×2 human keratinocytes treated with base editor … ×2 human keratinocytes, ×2

Supports a between-group comparison across 12 samples.

How we read this: 5 replicated groups read from 12 sample titles; they account for 12 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
Datasets on a similar topic

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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.