Generation of the integration-free induced pluripotent stem cell line (FHUSTCi001-A) from a patient with glomerulopathy with fibronectin deposits harboring FN1 mutation.
Generation of the integration-free induced pluripotent stem cell line (FHUSTCi001-A) from a patient with glomerulopathy with fibronectin deposits harboring FN1 mutation.
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DOI：
10.1016/j.scr.2022.102751
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发表时间：
2022-03
影响因子：
1.2
通讯作者：
Xin Yu;Haitao Wang;Fang Xiao;Shan Jiang;Kailin Li;Qiuxing Chen;Gaosheng Wang;Feng Kong;Shengtian Zhao
中科院分区：
文献类型：
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作者：
Xin Yu;Haitao Wang;Fang Xiao;Shan Jiang;Kailin Li;Qiuxing Chen;Gaosheng Wang;Feng Kong;Shengtian Zhao
肾小球病伴纤维连接蛋白沉积（GFND）是一种常染色体显性遗传性肾病，表现为镜下血尿、蛋白尿和高血压，可能导致终末期肾衰竭。在这项研究中，使用非整合附加型载体，诱导多能干细胞（iPSC）系，FHUSTC 1001-A，来自一个11岁的男孩与GFND携带杂合c.5602G > A（p.V1868M）突变的FN 1基因的外周血单核细胞。所产生的iPSC系具有正常的核型，表达多能性标记，并且具有在体内形成所有三个胚层的能力。该iPSC系为研究GFND疾病的发病机制提供了有用的细胞模型。
Glomerulopathy with fibronectin deposits (GFND) is an autosomal dominant kidney disease exhibiting microscopic hematuria, proteinuria, and hypertension that may lead to end-stage renal failure. In this study, using non-integrative episomal vectors an induced pluripotent stem cell (iPSC) line, FHUSTCi001-A, was derived from peripheral blood mononuclear cells of an 11-year-old boy with GFND carrying a heterozygous c.5602G > A (p.V1868M) mutation in theFN1gene. The generated iPSC line has a normal karyotype, expresses pluripotency markers, and has the capacity to form all three germ layersin vivo. This iPSC line offers a useful cellular model to study the pathogenesis of GFND disease.