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Metadata

Name
Single-cell RNA sequencing data from hiPSC disease modeling of Loeys-Dietz Syndrome (LDS)
Repository
Gene Expression Omnibus
Identifier
geo.series:GSE175647
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.
Data or Study Types
Expression profiling by high throughput sequencing
Source Organization
National Center for Biotechnology Information
Access Conditions
available
Year
2021
Access Hyperlink
http://www.ncbi.nlm.nih.gov/sites/GDSbrowser?acc=GSE175647

Distributions

  • Encoding Format: Bioproject ; URL: https://www.ncbi.nlm.nih.gov/bioproject/PRJNA733141
  • Encoding Format: TXT ; URL: ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE1nnn/GSE175647/matrix/
  • Encoding Format: MINiML ; URL: ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE1nnn/GSE175647/miniml/
  • Encoding Format: SOFT ; URL: ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE1nnn/GSE175647/soft/
This project was funded in part by grant U24AI117966 from the NIH National Institute of Allergy and Infectious Diseases as part of the Big Data to Knowledge program. We thank all members of the bioCADDIE community for their valuable input on the overall project.