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Impaired NEPHRIN localization in kidney organoids derived from nephrotic patient iPS cells

17 Feb 2021

Abstract excerpt

Mutations in the NPHS1 gene, which encodes NEPHRIN, cause congenital nephrotic syndrome, resulting from impaired slit diaphragm (SD) formation in glomerular podocytes. We previously reported NEPHRIN and SD abnormalities in the podocytes of kidney organoids generated from patient-derived induced pluripotent stem cells (iPSCs) with an NPHS1 missense mutation (E725D). However, the mechanisms underlying the disease...

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PMID: 33597637
DOI: 10.1038/s41598-021-83501-9

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