Menara Giulia, Lefort Nathalie, Antignac Corinne, Mollet Géraldine
Université de Paris, Imagine Institute, Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Paris, France.
iPS Core Facility, Université de Paris, Imagine Institute, INSERM UMR U1163, Paris, France.
Stem Cell Res. 2020 Jul;46:101878. doi: 10.1016/j.scr.2020.101878. Epub 2020 Jun 18.
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.
编码足突蛋白的NPHS2基因突变是大多数家族性类固醇抵抗性肾病综合征（SRNS）的病因，SRNS是一种罕见的肾小球病，会迅速发展为终末期肾病。我们从一名患者身上获取了外周血单个核细胞（PBMC），该患者的NPHS2基因存在纯合的c.413G>A替换（p.R138Q），这是欧洲人群中最常见的突变。通过对山中因子进行非整合病毒转导，对PBMC进行重编程。由此产生的诱导多能干细胞（iPSC）显示出正常的核型，表达多能性标志，并且能够进行多谱系分化，为研究SRNS的病理机制和进行药物测试提供了一个有用的工具。
