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1.
Stem Cell Res ; 75: 103307, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38244535

ABSTRACT

FHL1 gene locates in the Xq26 region and encodes for four and half LIM domain protein 1. It plays a crucial role in muscle cells and mutations in FHL1 are related to muscular dystrophy (MD). Peripheral blood mononuclear cells (PBMCs) were obtained from 2 family patients with MD that carry a pathogenic missense mutation in FHL1 (c.377G > A, p.C126Y). Induced pluripotent stem cells (iPSCs) were generated by PBMCs reprogramming using the lentiviral-hSTEMCCA-loxP vector, obtaining FHL1-T and FHL1-V iPSCs lines from patients. FHL1 genotype was maintained, and stemness and pluripotency were confirmed in both iPSCs lines.


Subject(s)
Induced Pluripotent Stem Cells , Muscular Dystrophies , Humans , Mutation, Missense , Induced Pluripotent Stem Cells/metabolism , Leukocytes, Mononuclear/metabolism , Muscle Proteins/genetics , Mutation , Intracellular Signaling Peptides and Proteins/genetics , LIM Domain Proteins/genetics
2.
Stem Cell Res ; 71: 103157, 2023 09.
Article in English | MEDLINE | ID: mdl-37393721

ABSTRACT

The arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disease characterized by the progressive replacement of contractile myocardium by fibro-fatty adipose tissue, that generates ventricular arrhythmias and sudden death in patients. The ACM has a genetic origin with alterations in desmosomal genes with the most commonly mutated being the PKP2 gene. We generated two CRISPR/Cas9 edited iPSCs lines, one iPSC line with a point mutation in PKP2 reported in patients with ACM and another iPSC line with a premature stop codon to knock-out the same gene.


Subject(s)
Arrhythmogenic Right Ventricular Dysplasia , Cardiomyopathies , Induced Pluripotent Stem Cells , Humans , Point Mutation , Induced Pluripotent Stem Cells/metabolism , Arrhythmogenic Right Ventricular Dysplasia/genetics , CRISPR-Cas Systems/genetics , Cardiomyopathies/genetics , Mutation/genetics , Plakophilins/genetics , Plakophilins/metabolism
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