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

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-y...

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Bibliographic Details
Published inStem cell research Vol. 72; p. 103203
Main Authors She, Lecheng, Li, Xiayin, Bai, Ming
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.10.2023
Elsevier
Subjects
Adult
Female
Fibronectins - genetics
Glomerulonephritis, Membranoproliferative - metabolism
Glomerulonephritis, Membranoproliferative - pathology
Humans
Induced Pluripotent Stem Cells - metabolism
Leukocytes, Mononuclear
Mutation
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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2023.103203