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Series GSE138979 Query DataSets for GSE138979
Status Public on Aug 17, 2020
Title Single-Cell RNA-Seq and Patient-Specific iPSCs Reveal Endocardial Abnormalities in Hypoplastic Left Heart Syndrome
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary 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.
Overall design This is the first study providing evidence that a developmentally impaired endocardium can contribute to the ventricular and valvular hypoplasia in hypoplastic left heart syndrome (HLHS), which may provide a novel therapeutic target for early intervention and heart regeneration for this condition.
Contributor(s) Miao Y, Tian L, Gu M
Citation(s) 32810435
Submission date Oct 16, 2019
Last update date Jun 28, 2021
Contact name Lei Tian
Phone 6502388262
Organization name Stanford's Postdoctoral Scholar programs
Street address 1215 Welch Rd
City Stanford
State/province CA
ZIP/Postal code 94305
Country USA
Platforms (2)
GPL20301 Illumina HiSeq 4000 (Homo sapiens)
GPL24676 Illumina NovaSeq 6000 (Homo sapiens)
Samples (16)
GSM4125583 Control
GSM4125584 Hypoplastic left heart syndrome (HLHS) patient
GSM4125585 Normal fetal right ventricle vascular endothelial cadherin (CD144/CDH5) negative cells
BioProject PRJNA577916
SRA SRP225934

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Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE138979_RAW.tar 141.8 Mb (http)(custom) TAR (of H5)
GSE138979_gene.count.txt.gz 4.7 Mb (ftp)(http) TXT
SRA Run SelectorHelp
Raw data are available in SRA
Processed data provided as supplementary file
Processed data are available on Series record

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