Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

Single-Cell RNA Sequencing of chondrogenically induced urine-derived stem/stromal cells from patients with COL2A1 variants under control and IGF1-treated conditions


ABSTRACT: COL2A1-associated skeletal dysplasias and growth disorders affect cartilage extracellular matrix and endochondral growth, but patient growth-plate tissue is largely inaccessible, limiting non-invasive modelling of disease- and growth-factor-responsive molecular programs. Here, we generated chondrogenically induced urine-derived stem/stromal cells (chUSCs) from two individuals with heterozygous pathogenic COL2A1 variants. Single-cell RNA sequencing was performed in two patient-derived lines under control and IGF1-treated conditions.

INSTRUMENT(S): Illumina NovaSeq X

ORGANISM(S): Homo sapiens

SUBMITTER: Emily Brockmann 

PROVIDER: E-MTAB-17280 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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