iPSC line DHMCi019-A is generated from a patient with hereditary nephrotic syndrome harboring compound heterozygous NPHS2 variants
Summary
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. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Tabatabaeifar M, Matthes R, Burau K, Schaefer F, Jung-Klawitter S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Oct;88:103835 |
| PubMed | 40961566 |
| DOI | 10.1016/j.scr.2025.103835 |