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

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.

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Publication Details

Journal
Stem Cell Research
Published
2025-09-15
DOI
https://doi.org/10.1016/j.scr.2025.103836
Primary Topic
Renal Diseases and Glomerulopathies
Type
article
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article

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

Franz Schaefer, Karin Burau, Sabine Jung‐Klawitter, Mansoureh Tabatabaeifar et al.
Stem Cell Research
Renal Diseases and Glomerulopathies
article

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

Franz Schaefer, Karin Burau, Sabine Jung‐Klawitter, Mansoureh Tabatabaeifar, Robert Matthes
article en

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.

Stem Cell ResearchVol. 88
Heidelberg University (DE), University Hospital Heidelberg (DE)
Openalex Percentile: Top 73%
Renal Diseases and Glomerulopathies
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