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

Author(s)

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

Affiliation

^[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

• Document type: Journal article
• Source: STEM CELL RESEARCH; v. 54, JUL 2021.
• Web of Science Citations: 0

Abstract

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)

• 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