Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene.

Abstract

Mutations in the NPHS2 gene, encoding podocin, are responsible for the majority of familial cases of steroid-resistant nephrotic syndrome (SRNS), a rare glomerulopathy that rapidly progresses to end-stage renal disease. We obtained peripheral blood mononuclear cells (PBMCs) from a patient carrying the homozygous c.413G>A substitution (p.R138Q) in NPHS2 gene, which is the most prevalent mutation in the European population. The PBMCs were reprogrammed by non-integrative viral transduction of the Yamanaka's factors. The resulting iPSCs display normal karyotype, express pluripotency hallmarks and are capable of multilineage differentiation, offering a useful tool to study pathological mechanisms of SRNS and perform drug testing.

• Authors: Giulia Menara, Nathalie Lefort, Corinne Antignac, Géraldine Mollet
• Journal: Stem cell research (Stem Cell Res) Vol. 46 Pg. 101878 (07 2020) ISSN: 1876-7753 [Electronic] England
• PMID: 32585588 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Chemical References

• Intracellular Signaling Peptides and Proteins
• Membrane Proteins
• NPHS2 protein
• Steroids

Topics

• Humans
• Induced Pluripotent Stem Cells
• Intracellular Signaling Peptides and Proteins
• Leukocytes, Mononuclear
• Membrane Proteins
• Mutation
• Nephrotic Syndrome (genetics)
• Steroids (therapeutic use)