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


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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Borsoi J, Farinha-Arcieri LE, Morato-Marques M, Delgado Sarafian R, Pinheiro M, Veiga Pereira L
Journal Stem cell research
Publication Date 2021 Jul;54:102434
PubMed 34174776
DOI 10.1016/j.scr.2021.102434

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