Generation of two human induced pluripotent stem cell (hiPSC) lines derived from unrelated Marfan Syndrome patients


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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Borsoi J, Morato-Marques M, de Araújo Tofoli F, Assis Pereira L, Farinha-Arcieri LE, Delgado Sarafian R, Alvarez Perez AB, Veiga Pereira L
Journal Stem cell research
Publication Date 2021 Jul;54:102407
PubMed 34062330
DOI 10.1016/j.scr.2021.102407

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