PXD065237

PXD065237 is an original dataset announced via ProteomeXchange.

Title	Transcriptomic and proteomic analysis of osteogenesis imperfecta disease-specific induced pluripotent stem cells
Description	Background: Osteogenesis imperfecta (OI) is a rare genetic bone disease that causes bone fragility and growth deformities. OI-derived disease-specific induced pluripotent stem cells (iPSC) can reflect disease pathogenesis. Hence, investigating the pathogenesis of OI through OI-iPSCs holds significant value. Methods: We used reprogramming technology to induce peripheral blood cells from OI patients into pluripotent stem cells, and at the same time, the induced pluripotent stem cells were tested for relevant biological characteristics. RNA and protein of iPSC samples from OI patients and normal controls were extracted for transcriptome sequencing and proteomics sequencing, respectively, to screen the differentially expressed genes (DEGs) and differentially expressed proteins (DEPs) of OI. Following this, GO and KEGG enrichment analyses were conducted on the identified DEGs and DEPs using bioinformatics tools. The genes and proteins co-differentially expressed in OI were also identified by DEGs and DEPs intersection analysis, and further GO and KEGG enrichment analyses were performed to explore their mechanisms of action in the pathogenesis of OI. Results: Two OI patients' peripheral blood was effectively used in our investigation to generate iPSC. The surface markers SSEA4 and TRA-1-81 exhibited positive expression, and their karyotypes were normal. Transcriptomic analysis identified 671 DEGs and proteomic analysis identified 636 DEPs. DEGs and DEPs were shown to be substantially enriched in metabolic pathways, according to transcriptome and proteome analyses. In addition, Venn diagrams revealed 22 overlapping genes for DEGs and DEPs, of which VCL was the key target gene. Conclusions: Transcriptome and proteome analysis of iPSC from patients with OI in this work showed that VCL is a unique OI biomarker and that metabolic pathways may be an effective therapeutic pathway for OI. This offers a new perspective on the treatment approaches for OI.
HostingRepository	iProX
AnnounceDate	2025-06-19
AnnouncementXML	Submission_2025-06-19_20:00:05.105.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Minglin Ou
SpeciesList	scientific name: Homo sapiens; NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	Q Exactive Plus

Revision	Datetime	Status	ChangeLog Entry
0	2025-06-19 19:59:43	ID requested
⏵ 1	2025-06-19 20:00:05	announced

Dataset with its publication pending

submitter keyword: osteogenesis imperfecta

Chune Mo
contact affiliation	Guilin Medical University
contact email	cemo@glmc.edu.cn
lab head
Minglin Ou
contact affiliation	Guilin Medical University
contact email	minglinou@glmc.edu.cn
dataset submitter

iProX dataset URI