Generation of an induced pluripotent stem cell line XJHi001-A from a fibronectin glomerulopathy patient carrying a heterozygous NM_212482.2(C.5888-1G > C) mutation in the FN1 gene
Summary
Fibronectin glomerulopathy (FNG) is an autosomal dominant disease, and nearly half of patients are involved in a mutation of the fibronectin gene (FN1). By using electrotransformation, we generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 32-years-old female patient who carried a heterozygous NM_212482.2(C.5888-1G > C) mutation in the FN1 gene. This cellular model is a useful tool to investigate pathogenic mechanisms in FNG and to develop potential treatments for FNG. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | She L, Li X, Bai M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Oct;72:103203 |
| PubMed | 37801747 |
| DOI | 10.1016/j.scr.2023.103203 |