Robert Matthes , Mansoureh Tabatabaeifar , Karin Burau , Franz Schaefer , Sabine Jung-Klawitter
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引用次数: 0
摘要
编码足细胞膜蛋白podocin的NPHS2基因的隐性突变是儿童期肾病综合征最常见的遗传原因。为了产生诱导多能干细胞(iPSCs),使用Cytotune®-iPSC 2.0 Sendai Reprogramming Kit (Invitrogen)对患有纯合子NPHS2突变(c.413G> a (;)(c.413G> a))的男性患者的外周血单个核细胞(PBMCs)进行重编程。由此产生的iPSCs表现出正常的形态和核型,表达未分化的hPSC状态标记,并在体外显示出自发分化为所有三个胚层的能力。
iPSC line DHMCi010-A is derived from a hereditary nephrotic syndrome patient with an autosomal recessive NPHS2 mutation
Recessive mutations in the NPHS2 gene, encoding the podocyte membrane protein podocin, are the most common genetic cause of childhood-onset nephrotic syndrome. To generate induced pluripotent stem cells (iPSCs), peripheral blood mononuclear cells (PBMCs) from a male patient with a homozygous NPHS2 mutation (c.413G>A(;)(c.413G>A)) were reprogrammed using the Cytotune®-iPSC 2.0 Sendai Reprogramming Kit (Invitrogen). The resulting iPSCs exhibit normal morphology and karyotype, express undifferentiated hPSC state markers, and demonstrate the capacity for spontaneous differentiation into all three germ layers in vitro.
期刊介绍:
Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.