Generation of an induced pluripotent stem cell line XJHi001-A from a fibronectin glomerulopathy patient carrying a heterozygous NM_212482.2(C.5888-1G > C) mutation in the FN1 gene

从携带 FN1 基因杂合 NM_212482.2(C.5888-1G > C) 突变的纤连蛋白肾小球病患者中生成诱导性多能干细胞系 XJHi001-A

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作者:Lecheng She, Xiayin Li, Ming Bai

Abstract

Fibronectin glomerulopathy (FNG) is an autosomal dominant disease, and nearly half of patients are involved in a mutation of the fibronectin gene (FN1). By using electrotransformation, we generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 32-years-old female patient who carried a heterozygous NM_212482.2(C.5888-1G > C) mutation in the FN1 gene. This cellular model is a useful tool to investigate pathogenic mechanisms in FNG and to develop potential treatments for FNG.

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