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Single-cell analysis of human fibrous dysplasia bone reveals a fibrotic transcriptome and somatic, mosaic GNAS R201H/C mutations in endothelial, perivascular, and stromal cells

GSE301458 Homo sapiens (human) Single-cell RNA-seq 12 samples Submitted 2025/07/29 Platform GPL15520Platform GPL24676
At a glance

Single-cell RNA-seq · human · 12 samples

What it is
Single-cell RNA-seqGene activity measured in thousands of individual cells, so cell types can be told apart.
Organism
Homo sapiens (human)
Samples
12 samples: 9 distinct titles, 1 of them repeatedGroups 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.
Paper
Single-cell analysis of human fibrous dysplasia bone reveals a fibrotic transcriptome and GNAS variants in endothelial, perivascular, and stromal cellsAmerican journal of human genetics · 2025
Summary (written by the submitters)
Genetic mosaicism is a leading cause of human disease across the lifespan. Improving the tools to detect somatic mosaicism and applying them to understand the cellular and molecular mechanisms that contribute to disease is of critical importance for improving human health. Fibrous dysplasia (FD) is a prototypical disease of Gs-GPCR activation caused by somatic, mosaic GNAS R201H/C mutations that result in fibrotic bone.
Read the full summary ↓
Utilizing single-cell RNA sequencing and a unique GNAS genotyping strategy, we analyzed non-hematopoietic cells from FD and non-FD human bone. FD bone showed an altered fibroblast composition with a unique FD-specific osteoblastic cluster. Surprisingly, in addition to the skeletal stromal lineages, endothelial and perivascular cells also expressed GNAS R201H/C , which was confirmed using BaseScope, suggesting that GNAS R201H/C mutations are present in multiple non-osteogenic cell lineages. We also identified a common fibrotic transcriptomic signature across FD cell lineages. Our results highlight the effects of GNAS mosaicism on the cellular and transcriptomic landscapes of FD, identify previously unrecognized cell types that may be relevant to FD pathogenesis, and reframe our understanding of GNAS R201H/C function in bone.
Published in
Single-cell analysis of human fibrous dysplasia bone reveals a fibrotic transcriptome and GNAS variants in endothelial, perivascular, and stromal cells
Wentworth KL, Fierro FA, Moody TA et al. · American journal of human genetics 2025 · PMID 40848713 · doi:10.1016/j.ajhg.2025.07.018
This dataset
Open GSE301458 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 GSE301458_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: Single-cell studies usually ship their counts as 10x files (matrix.mtx, barcodes.tsv, features.tsv), an .h5 file, or an .rds / .h5ad object that Seurat or Scanpy can open. Look for those among the supplementary files.

Also filed as BioProject PRJNA1285276 and SRA study SRP597650. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 40848713) ↗
Study design
9 distinct titles, 1 of them repeated
Bone, FibrousDysplasia ×4

How we read this: Read from 12 sample titles: 9 distinct titles with little repetition. 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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