iPSC系DHMCi019-A是由遗传性肾病综合征患者产生的，该患者携带复合杂合NPHS2变异体。

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-09-12 DOI:10.1016/j.scr.2025.103835

Mansoureh Tabatabaeifar , Robert Matthes , Karin Burau , Franz Schaefer , Sabine Jung-Klawitter

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引用次数: 0

摘要

编码狭缝隔膜蛋白podocin的NPHS2突变是儿童类固醇抵抗性肾病综合征的常见原因。已经确定了超过120个突变，导致不同的亚细胞足蛋白定位模式。从携带复合杂合NPHS2突变（c.379G> a (;)c.857_858del）的5岁女性患者获得外周血单个核细胞（PBMCs）。使用Cytotune®-iPSC 2.0仙台重编程试剂盒（Invitrogen）生成患者来源的诱导多能干细胞（iPSCs）。这些iPSCs表现出正常的核型和形态，具有未分化的hPSC状态标记的表达和向所有三个胚层的分化潜力。

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iPSC line DHMCi019-A is generated from a patient with hereditary nephrotic syndrome harboring compound heterozygous NPHS2 variants

Mutations in NPHS2, encoding the slit diaphragm protein podocin, are a common cause of steroid-resistant nephrotic syndrome in children. Over 120 mutations have been identified, leading to diverse subcellular podocin localization patterns. Peripheral blood mononuclear cells (PBMCs) were obtained from a five-year-old female patient carrying a compound-heterozygous NPHS2 mutation (c.379G>A(;)c.857_858del). Patient-derived induced pluripotent stem cells (iPSCs) were generated using the Cytotune®-iPSC 2.0 Sendai Reprogramming Kit (Invitrogen). These iPSCs exhibited normal karyotype and morphology, with confirmed expression of undifferentiated hPSC state markers and differentiation potential into all three germ layers.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

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.