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

Author(s)

Borsoi, Juliana ; Morato-Marques, Mariana ; Tofoli, Fabiano de Araujo ; Pereira, Lucas Assis ; Farinha-Arcieri, Luis Ernesto ; Sarafian, Raquel Delgado ; Perez, Ana Beatriz Alvarez ; Pereira, Lygia Veiga

• Document type: Journal article
• Source: STEM CELL RESEARCH; v. 54, p. 5-pg., 2021-05-29.

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. (AU)

• FAPESP's process: 15/01339-7 - Generation of FBN1 gene mutations in Induced Pluripotent Stem Cells (IPSCs) using CRISPR/Cas9 system
• Grantee: Juliana Borsoi Sant'Ana
• Support Opportunities: Scholarships in Brazil - Master