从一名患有核仁肿大性间质性肾炎的患者中生成人诱导多能干细胞系（CMCi001-A），该患者的FANCD2/FANCI相关核酸酶1基因存在纯合移码缺失突变c.1985_1994del10。
Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene.
作者信息
Na Do Hyun, Lim Sun Woo, Kim Bo-Mi, Kim Kyoung Woon, Shin Yoo Jin, Chae Hyojin, Ko Eun Jeong, Yang Chul Woo, Kim Myungshin, Chung Byung Ha
机构信息
Convergent Research Consortium for Immunologic Disease; Transplant Research Center; Division of Nephrology, Department of Internal Medicine; Korea Ordnance Tactical Attack Range, Republic of Korea Air Force, Gangwon, South Korea.
Convergent Research Consortium for Immunologic Disease; Transplant Research Center.
出版信息
Stem Cell Res. 2020 Jul;46:101876. doi: 10.1016/j.scr.2020.101876. Epub 2020 Jun 12.
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.
人诱导多能干细胞系（KIN-hiPSCs）（CMCi001-A）由一名42岁患有核肿大性间质性肾炎（KIN）的女性外周血单个核细胞（PBMCs）衍生而来，该疾病由FANCD2/FANCI相关核酸酶1（FAN1）基因突变引起，采用仙台病毒生成。KIN-hiPSCs表现出典型的人胚胎干细胞样形态，表达所有多能性相关标志物，并直接分化为所有三个胚层。患者的PBMCs和KIN-hiPSCs的核型分析显示为47，XXX。总之，我们生成了一个含有FAN1基因突变的新型患者特异性hiPSC系，可用于为KIN病理生理学提供更多见解。
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