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.
Stem Cell Res
; 72: 103203, 2023 10.
Article
en En
| MEDLINE
| ID: mdl-37801747
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Glomerulonefritis Membranoproliferativa
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Fibronectinas
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Células Madre Pluripotentes Inducidas
Límite:
Adult
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Female
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Humans
Idioma:
En
Revista:
Stem Cell Res
Año:
2023
Tipo del documento:
Article
País de afiliación:
China