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Single-cell RNA sequencing data from hiPSC disease modeling of Loeys-Dietz Syndrome (LDS)

ABSTRACT: Single-cell RNA sequencing data from hiPSC disease modeling of Loeys-Dietz Syndrome (LDS)

PROVIDER: PRJNA733141 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR14667192_1.fastq.gz	Fastqsanger.gz
	SRR14667192_2.fastq.gz	Fastqsanger.gz
	SRR14667193_1.fastq.gz	Fastqsanger.gz
	SRR14667193_2.fastq.gz	Fastqsanger.gz
	SRR14667194_1.fastq.gz	Fastqsanger.gz

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Single-cell RNA sequencing data from hiPSC disease modeling of Loeys-Dietz Syndrome (LDS)

Project description:For in vitro disease modeling of LDS, we used healthy donor cells (TGFBR1+/+), and generated heterozygote (TGFBR1A230T/+), and homozygote (TGFBR1A230T/A230T) knock-in clones using CRISPR-Cas9 gene editing. We also generated hiPSC from peripheral blood mononuclear cells harvested from an LDS patient, and corrected the mutation in the patient-derived hiPSC. To address the lineage-specific effects of TGFBR1A230T, and SMAD3c.652delA/+, hiPSC were differentiated into cardiovascular progenitor cell-derived smooth muscle cells (CPC-SMC), and neural crest stem cell-derived smooth muscle cells (NCSC-SMC) using in vitro differentiation protocols. We performed large-scale single cell profiling of the resulting CPC-SMC and NCSC-SMC.

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Project description:Loeys-Dietz syndrome (LDS) is a hereditary aneurysm disorder caused by mutations that impair transforming growth factor-β (TGF-β) signaling. Although LDS patients develop aneurysms throughout the arterial tree, the aortic root is a site of increased risk. In order to identify molecular determinants of this regional vulnerability, we investigated the transcriptional heterogeneity of vascular smooth muscle cells (VSMCs) in the aorta of Tgfbr1M318R/+ LDS mouse models by single cell RNA sequencing (scRNAseq) and spatial transcriptomics. Downregulation of transcripts coding for components of the extracellular matrix-receptor mechanosensing apparatus and upregulation of transcripts related to stress and inflammation were observed in all Tgfbr1M318R/+ VSMCs. However, regardless of genotype, a subset of Gata4-expressing VSMCs predominantly located in the aortic root intrinsically displayed a less differentiated, pro-inflammatory transcriptional profile. A similar population was also identified in a published scRNAseq dataset of the aorta of LDS patients via the Coordinated Gene Activity in Pattern Sets (CoGAPS)/ProjectR pipeline. Postnatal VSMC-specific Gata4 deletion resulted in reduced aortic root dilation in LDS mice, in association with decreased levels of Agtr1a and other pro-inflammatory regulators. We propose that widespread dysregulation of mechanosensitive pathways may act on regionally restricted factors that “prime” specific aortic locations to increased risk of aneurysm.

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Gene expression of LDS-OECs

Project description:The Loeys-Dietz syndrome (LDS) is an inherited connective tissue disorder caused by mutations in the transforming growth factor β (TGF-β) receptors TGFBR1 or TGFBR2. Most patients with LDS develop severe aortic aneurysms resulting in early need of surgical intervention. We investigated circulating outgrowth endothelial cells (OEC) from the peripheral blood of LDS to gain further insight into the pathophysiology of the disorder. We performed gene expression profiling using microarray analysis followed by quantitative PCR for verification of gene expression. OECs isolated from age- and sex-matched healthy donors served as reference control.

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Gene expression of LDS-OECs

Project description:The Loeys-Dietz syndrome (LDS) is an inherited connective tissue disorder caused by mutations in the transforming growth factor Î² (TGF-Î²) receptors TGFBR1 or TGFBR2. Most patients with LDS develop severe aortic aneurysms resulting in early need of surgical intervention. We investigated circulating outgrowth endothelial cells (OEC) from the peripheral blood of LDS to gain further insight into the pathophysiology of the disorder. We performed gene expression profiling using microarray analysis followed by quantitative PCR for verification of gene expression. OECs isolated from age- and sex-matched healthy donors served as reference control. 3 OEC clones from different LDS patients were compared to their respective age- and sex-matched OEC clone isolated from healthy donors.

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Project description:Intrinsic Gata4 expression sensitizes the aortic root to dilation in a Loeys-Dietz syndrome mouse model

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