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Generation of Human Cardiomyocytes: A Differentiation Protocol from Feeder-free Human Induced Pluripotent Stem Cells
Published on: June 28, 2013
Generation of two human induced pluripotent stem cell (hiPSC) lines derived from unrelated Marfan Syndrome patients
Juliana Borsoi1, Mariana Morato-Marques1, Fabiano de Araújo Tofoli1
1National Laboratory for Embryonic Stem Cells (LaNCE), Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, SP 05508-090, Brazil.
Abstract:
Marfan Syndrome (MFS) is a pleiotropic and autosomal dominant condition caused by pathogenic variants in FBN1. Although fully penetrant, clinical variability is frequently observed among patients and there are only few genotype-phenotype correlations described so far. Here, we describe the generation and characterization of hiPSC lines derived from two unrelated MFS patients harboring heterozygous variants in FBN1. Human iPSCs were obtained from erythroblasts reprogrammed with episomal vectors carrying the reprogramming factors OCT4, SOX2, KLF4, c-MYC and LIN-28, and characterized according to established criteria. Differentiated cells demonstrated different patterns of fibrillin-1 expression suggesting different molecular mechanisms between the two patients.
Insights
Researchers generated induced pluripotent stem cells (iPSCs) from Marfan Syndrome (MFS) patients with FBN1 variants. Differentiated cells showed distinct fibrillin-1 expression, suggesting varied molecular mechanisms in MFS.
Area of Science:
- Genetics
- Stem Cell Biology
- Molecular Medicine
Background:
- Marfan Syndrome (MFS) is an autosomal dominant disorder caused by FBN1 gene variants.
- Despite full penetrance, MFS exhibits significant clinical variability.
- Limited genotype-phenotype correlations are established for MFS.
Purpose of the Study:
- To generate and characterize human induced pluripotent stem cell (hiPSC) lines from Marfan Syndrome patients.
- To investigate potential differences in molecular mechanisms underlying MFS based on distinct FBN1 variants.
Main Methods:
- hiPSCs were derived from erythroblasts of two unrelated MFS patients with heterozygous FBN1 variants.
- Reprogramming utilized episomal vectors encoding OCT4, SOX2, KLF4, c-MYC, and LIN-28.
- hiPSC lines were characterized using established criteria.
Main Results:
- Successfully generated and characterized hiPSC lines from MFS patients.
- Differentiated cells displayed differential patterns of fibrillin-1 expression.
- Observed variations in fibrillin-1 expression suggest distinct molecular pathways in MFS.
Conclusions:
- hiPSC technology provides a valuable model for studying MFS heterogeneity.
- Patient-derived hiPSCs reveal differential fibrillin-1 expression patterns.
- These findings highlight distinct molecular mechanisms contributing to Marfan Syndrome variability.
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