PLX300524

GSE138979: Single-Cell RNA-Seq and Patient-Specific iPSCs Reveal Endocardial Abnormalities in Hypoplastic Left Heart Syndrome

  • Organsim human
  • Type RNASEQ
  • Target gene
  • Project ARCHS4

Hypoplastic left heart syndrome (HLHS) is one of the most devastating forms of congenital heart defects. Previous studies have only focused on intrinsic defects in the myocardium. However, this does not sufficiently explain the abnormal development of the cardiac valve, septum, and vasculature, which are known to originate from the endocardium. Here, using single-cell RNA profiling, induced pluripotent stem cells, and fetal heart tissue with an underdeveloped left ventricle, we identified a developmentally impaired endocardial cell population in HLHS. The intrinsic endocardial deficits contributed to abnormal endothelial to mesenchymal transition, NOTCH signaling, and extracellular matrix organization, all of which are key factors in valve formation. Consequentially, endocardial abnormalities conferred reduced proliferation and maturation of cardiomyocytes through a disrupted fibronectin-integrin interaction. Several known HLHS de novo mutations all contributed to the abnormal endocardial gene expression through the alteration of promoter/enhancer activities. These mechanistic discoveries provide an alternative angle for early intervention and heart regeneration in HLHS. SOURCE: Lei Tian (tianlei@stanford.edu) - Stanford's Postdoctoral Scholar programs

View on GEOView in Pluto

Key Features

Enhance your research with our curated data sets and powerful platform features. Pluto Bio makes it simple to find and use the data you need.

Learn More

14K+ Published Experiments

Access an extensive range of curated bioinformatics data sets, including genomic, transcriptomic, and proteomic data.

Easy Data Import

Request imports from GEO or TCGA directly within Pluto Bio. Seamlessly integrate external data sets into your workflow.

Advanced Search Capabilities

Utilize powerful search tools to quickly find the data sets relevant to your research. Filter by type, disease, gene, and more.

Analyze and visualize data for this experiment

Use Pluto's intuitive interface to analyze and visualize data for this experiment. Pluto's platform is equipped with an API & SDKs, making it easy to integrate into your internal bioinformatics processes.

Read about post-pipeline analysis

View QC data and experiment metadata

View quality control data and experiment metadata for this experiment.

Request import of other GEO data

Request imports from GEO or TCGA directly within Pluto Bio.

Chat with our Scientific Insights team