INF2 mutations cause Charcot-Marie-Tooth disease (CMT), and /or focal segmental glomerulosclerosis (FSGS) in an autosomal dominant inheritance mode, whose underlying mechanism remainsunclear. Here, we report the generation of an iPSC line from a female patient with CMT and FSGS. The iPSC line from the patient's PBMCscarried aheterozygous INF2 deletion mutation (c.315_323delGCGCGCCGT) within the conserved E2. This line exhibited a normal karyotype, high expression of pluripotency markers, and trilineage differentiation potential. This line can be used to dissect the complex pathomechanism through further induction of differentiation into related cells and as a drug screening tool for INF2-associated diseases.

中文翻译：

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从患有腓骨肌萎缩症和局灶节段性肾小球硬化症的患者身上建立人诱导多能干细胞系 (SMUSHi003-A)

INF2突变以常染色体显性遗传模式引起腓骨肌萎缩症（CMT）和/或局灶节段性肾小球硬化症（FSGS），其潜在机制仍不清楚。在这里，我们报告了一名患有 CMT 和 FSGS 的女性患者的 iPSC 系的产生。来自患者 PBMC 的 iPSC 系在保守的 E2 内携带杂合 INF2 缺失突变 (c.315_323delGCGCGCCGT)。该品系表现出正常的核型、多能性标记的高表达和三系分化潜力。该细胞系可用于通过进一步诱导分化为相关细胞来剖析复杂的病理机制，并作为 INF2 相关疾病的药物筛选工具。