iPSC line DHMCi019-A is generated from a patient with hereditary nephrotic syndrome harboring compound heterozygous NPHS2 variants
Mutations in NPHS2, encoding the slit diaphragm protein podocin, are a common cause of steroid-resistant nephrotic syndrome in children. Over 120 mutations have been identified, leading to diverse subcellular podocin localization patterns. Peripheral blood mononuclear cells (PBMCs) were obtained fro...
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| Hauptverfasser: | , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
12 September 2025
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| In: |
Stem cell research
Year: 2025, Jahrgang: 88, Pages: 1-5 |
| ISSN: | 1876-7753 |
| DOI: | 10.1016/j.scr.2025.103835 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1016/j.scr.2025.103835 Verlag, kostenfrei, Volltext: https://www.sciencedirect.com/science/article/pii/S1873506125001850 
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| Verfasserangaben: | Mansoureh Tabatabaeifar, Robert Matthes, Karin Burau, Franz Schaefer, Sabine Jung-Klawitter |
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| 520 | |a Mutations in NPHS2, encoding the slit diaphragm protein podocin, are a common cause of steroid-resistant nephrotic syndrome in children. Over 120 mutations have been identified, leading to diverse subcellular podocin localization patterns. Peripheral blood mononuclear cells (PBMCs) were obtained from a five-year-old female patient carrying a compound-heterozygous NPHS2 mutation (c.379G>A(;)c.857_858del). Patient-derived induced pluripotent stem cells (iPSCs) were generated using the Cytotune®-iPSC 2.0 Sendai Reprogramming Kit (Invitrogen). These iPSCs exhibited normal karyotype and morphology, with confirmed expression of undifferentiated hPSC state markers and differentiation potential into all three germ layers. | ||
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