Lei Qunjuan, Zhou Wenyan, Huang Ling, Zhang Yu, Xu Xueqing, Guo Xiaohua
Department of Nephrology, Shenzhen Hospital, Southern Medical University, China.
Department of Precision Medicine, Shenzhen Hospital, Southern Medical University, China.
Stem Cell Res. 2024 Apr;76:103357. doi: 10.1016/j.scr.2024.103357. Epub 2024 Feb 22.
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.
INF2 突变以常染色体显性遗传模式导致夏科-马里-图斯病（CMT）和/或局灶节段性肾小球硬化症（FSGS），其潜在机制尚不清楚。在此，我们报告了一例患有 CMT 和 FSGS 的女性患者诱导多能干细胞（iPSC）系的产生。该患者外周血单个核细胞来源的 iPSC 系在保守的 E2 区域携带一个杂合 INF2 缺失突变（c.315_323delGCGCGCCGT）。该细胞系核型正常，多能性标志物表达高，具有三系分化潜能。该细胞系可通过进一步诱导分化为相关细胞来剖析复杂的发病机制，并可作为 INF2 相关疾病的药物筛选工具。
