Generation of genetically modified human induced pluripotent stem cell lines harboring haploin sufficient or dominant negative variants in the FBN1 gene

Autor(es)

Borsoi, Juliana ^[1] ; Farinha-Arcieri, Luis Ernesto ^[1] ; Morato-Marques, Mariana ^[1] ; Sarafian, Raquel Delgado ^[1] ; Pinheiro, Mara ^[2] ; Pereira, Lygia Veiga ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Natl Lab Embryon Stem Cells LaNCE, BR-05508090 Sao Paulo, SP - Brazil

^[2] Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, BR-05508090 Sao Paulo, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: STEM CELL RESEARCH; v. 54, JUL 2021.
• Citações Web of Science: 0

Resumo

Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. To investigate the molecular mechanisms of pathogenesis for the syndrome, we genetically modified the FBN1 gene in a line of induced pluripotent stem cells (hiPSCs) derived from a healthy donor using the CRISPR/Cas9 gene editing technology. The sublines described here were characterized according to established criteria and were shown to maintain pluripotency, three germ layer differentiation potential and genomic integrity. These clones can now be used to better understand the pathogenesis of MFS in different cell types. (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