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 podocin 的NPHS2基因突变是大多数类固醇抵抗性肾病综合征 (SRNS) 家族病例的原因，SRNS 是一种罕见的肾小球病，可迅速发展为终末期肾病。我们从一名携带NPHS2基因纯合子 c.413G> A 替代 (p.R138Q) 的患者那里获得了外周血单个核细胞 (PBMC) ，这是欧洲人群中最普遍的突变。PBMC 通过 Yamanaka 因子的非整合性病毒转导重新编程。由此产生的 iPSCs 显示正常的核型、表达多能性标志并且能够进行多向分化，为研究 SRNS 的病理机制和进行药物测试提供了有用的工具。