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Human Renal Cells and Skin Fibroblast from Individuals with Nephropathic Cystinosis and their Controls

ABSTRACT: Transcriptional profiling of normal and cystinotic human renal proximal tubular epithelial cells (RPTECs) and skin fibroblasts with and without cysteine dimethyl ester (CDME). CDME- loaded RPTECs and fibroblasts did not transcriptionally mimic the cystinotic phenotype suggesting that CDME- loading is a poor surrogate in vitro model. Results highlight marked transcriptional differences between cystinotic RPTECs and fibroblasts from the same individual. Many genes are significantly dysregulated in cystinotic RPTECs (n=1,926; FDR<0.05) and fibroblasts (n=745; FDR<0.05), with 219 overlapping genes associated with DNA integrity loss and damage. Transcriptional microarray analysis identified that the majority of cystinosis affected genes belong to one large cluster, crucial for normal lysosomal and mitochondrial function.

ORGANISM(S): Homo sapiens

PROVIDER: GSE190500 | GEO | 2023/12/08

REPOSITORIES: GEO

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