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Single-cell RNAseq analysis of Nf1-deficient Prss56-derived cells from spinal columns of young and old mice

GSE305286 Mus musculus Expression profiling by high throughput sequencing 4 samples Submitted 2025/12/30 Platform GPL19057
Summary
Neurofibromatosis type 1 (NF1) is a genetic disorder affecting 1 in 3000 people due to heterozygous mutations in the NF1 gene. Patients with NF1 can develop multiple symptoms, such as neurofibromas, skin hyperpigmentation, and bone abnormalities, including tibial pseudarthrosis and spine deformity. Here, we aimed to elucidate the cellular origin and pathogenic mechanism of NF1 spine deformity. Prss56-Nf1 knockout (KO) mouse is a model that recapitulates neurofibromas and pseudarthrosis by carrying Nf1 gene inactivation in Prss56-expressing boundary cap (BC) cells, a neural crest subset, and their derivatives. Through transcriptomics analysis, we explored the molecular changes that occur through time in Prss56-derived cells populating the vertebral column of Prss56-Nf1 KO mice.
Published in
Pharmacological inhibition of RAS pathway alleviates spine deformity in a mouse model of neurofibromatosis type 1
Kovaci F, Goachet C, Perrin S et al. · Bone research 2025 · PMID 41397954 · doi:10.1038/s41413-025-00492-3
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Direct links to NCBI, no account and no request form: the whole study as GSE305286_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 4 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1304991 and SRA study SRP608478. Searching any of these in the dataset finder brings you back here.

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