Work

iPSC line DHMCi010-A is derived from a hereditary nephrotic syndrome patient with an autosomal recessive NPHS2 mutation

Year: 2025

Type: article

Abstract: Recessive mutations in the NPHS2 gene, encoding the podocyte membrane protein podocin, are the most common genetic cause of childhood-onset nephrotic syndrome. To generate induced pluripotent stem cells (iPSCs), peripheral blood mononuclear cells (PBMCs) from a male patient with a homozygous NPHS2 mutation (c.413G>A(;)(c.413G>A)) were reprogrammed using the Cytotune®-iPSC 2.0 Sendai Reprogramming Kit (Invitrogen). The resulting iPSCs exhibit normal morphology and karyotype, express undifferentiated hPSC state markers, and demonstrate the capacity for spontaneous differentiation into all three germ layers in vitro.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103836

Authors: Robert Matthes, Mansoureh Tabatabaeifar, Karin Burau, Franz Schaefer, Sabine Jung-Klawitter

Institutions: Heidelberg University, University Hospital Heidelberg

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360