The human-induced pluripotent stem cell (KIN-hiPSCs) line (CMCi001-A), derived from peripheral blood mononuclear cells (PBMCs) of a 42-year-old woman with karyomegalic interstitial nephritis (KIN) caused by the mutation of FANCD2/FANCI-Associated Nuclease 1 (FAN1) gene, was generated using Sendai virus. KIN-hiPSCs showed a typical human embryonic stem cell like morphology and expressed all pluripotency-associated markers, and directly differentiated into all three germ layers. Karyotyping of PBMCs of the patient and KIN-hiPSCs showed 47, XXX. In summary, we generated a novel patient-specific hiPSC line containing the mutation of FAN1 gene and it can be used to provide additional insights for KIN pathophysiology.

人类诱导的多能干细胞（KIN-hiPSCs）系（CMCi001-A）来源于一名FANCD2 /突变引起的42岁女性患有核仁型间质性肾炎（KIN）的外周血单核细胞（PBMC）。使用仙台病毒生成了FANCI相关核酸酶1（FAN1）基因。KIN-hiPSCs表现出典型的人类胚胎干细胞形态，并表达所有多能性相关标记，并直接分化为所有三个胚层。患者的PBMC和KIN-hiPSC的核型分析显示为47，XXX。总而言之，我们产生了一种新的患者特异性hiPSC细胞系，其中包含FAN1基因的突变，可用于为KIN病理生理学提供其他见解。