RNA-Seq of patient-derived COL2A1-mutant chondrogenic urine-derived stem cells against unaffected controls

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 three individuals with heterozygous pathogenic COL2A1 variants and three healthy controls. Bulk RNA sequencing compared patient-derived and control chUSCs.

INSTRUMENT(S): Illumina NovaSeq X

ORGANISM(S): Homo sapiens

SUBMITTER: Emily Brockmann 

PROVIDER: E-MTAB-17279 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress