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

Autor(es)

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

• Tipo de documento: Artigo Científico
• Fonte: STEM CELL RESEARCH; v. 54, p. 5-pg., 2021-05-29.

Resumo

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)

• Processo FAPESP: 15/01339-7 - Geração de mutações no gene FBN1 em células-tronco pluripotentes induzidas (iPSCs) utilizando o sistema CRISPR/Cas9
• Beneficiário: Juliana Borsoi Sant'Ana
• Modalidade de apoio: Bolsas no Brasil - Mestrado