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

• DOI: 10.1016/j.scr.2021.102407
• Publication Date: 2021-05-25T16:37:20Z
• Authors: Juliana Borsoi; Mariana Morato-Ma...; Fabiano de Araújo...; Lucas Assis Pereira; Luis Ernesto Fari...; Raquel Delgado Sa...; Ana Beatriz Alvar...; Lygia Veiga Pereira
• Keywords: Reprogramming; KLF4; Fibrillin

Marfan Syndrome (MFS) is a pleiotropic and autosomal dominant condition caused by pathogenic variants in FBN1. Although fully penetrant, clinical variability frequently observed among patients there are only few genotype-phenotype correlations described so far. Here, we describe the generation characterization of hiPSC lines derived from two unrelated MFS harboring heterozygous Human iPSCs were obtained erythroblasts reprogrammed with episomal vectors carrying reprogramming factors OCT4, SOX2, KLF4, c-MYC LIN-28, characterized according to established criteria. Differentiated cells demonstrated different patterns fibrillin-1 expression suggesting molecular mechanisms between patients.