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Transcriptomic profile of human induced pluripotent stem cells at single cell resolution.

ABSTRACT: Transcriptomic profile of human induced pluripotent stem cells at single cell resolution.

PROVIDER: PRJEB32421 | ENA |

REPOSITORIES: ENA

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Transcriptomic profile of human induced pluripotent stem cells at single cell resolution.

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Project 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.

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