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

被引：2
|
作者：
Na, Do Hyun [1 ,2 ,3 ,7 ]
Lim, Sun Woo [1 ,2 ]
Kim, Bo-Mi [1 ,2 ]
Kim, Kyoung Woon [1 ,2 ]
Shin, Yoo Jin [1 ,2 ]
Chae, Hyojin [4 ,5 ,6 ]
Ko, Eun Jeong [1 ,2 ,3 ]
Yang, Chul Woo [1 ,2 ,3 ]
Kim, Myungshin [4 ,5 ,6 ]
Ha Chung, Byung [1 ,2 ,3 ]
机构：
[1] Catholic Univ Korea, Coll Med, Seoul St Marys Hosp, Convergent Res Consortium Immunol Dis, Seoul, South Korea
[2] Catholic Univ Korea, Coll Med, Seoul St Marys Hosp, Transplant Res Ctr, Seoul, South Korea
[3] Catholic Univ Korea, Coll Med, Seoul St Marys Hosp, Div Nephrol,Dept Internal Med, Seoul, South Korea
[4] Catholic Univ Korea, Coll Med, Dept Lab Med, Seoul St Marys Hosp, Seoul, South Korea
[5] Catholic Univ Korea, Coll Med, Catholic Genet Lab Ctr, Seoul St Marys Hosp, Seoul, South Korea
[6] Catholic Univ Korea, Coll Med, Ctr Appl Genom & Precis Med, Seoul St Marys Hosp, Seoul, South Korea
[7] Republ Korea Air Force, Korea Ordnance Tact Attack Range, Gangwon, South Korea
来源：
STEM CELL RESEARCH | 2020年 / 46卷
基金：
新加坡国家研究基金会;
关键词：
Karyomegalic interstitial nephritis; FAN1; gene; Induced pluripotent stem cell;
D O I：
10.1016/j.scr.2020.101876
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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.
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页数：4
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