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

Autor:	Borsoi J; National Laboratory for Embryonic Stem Cells (LaNCE), Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, SP 05508-090, Brazil., Farinha-Arcieri LE; National Laboratory for Embryonic Stem Cells (LaNCE), Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, SP 05508-090, Brazil., Morato-Marques M; National Laboratory for Embryonic Stem Cells (LaNCE), Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, SP 05508-090, Brazil., Delgado Sarafian R; National Laboratory for Embryonic Stem Cells (LaNCE), Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, SP 05508-090, Brazil., Pinheiro M; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, SP 05508-090, Brazil., Veiga Pereira L; National Laboratory for Embryonic Stem Cells (LaNCE), Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, SP 05508-090, Brazil. Electronic address: lpereira@usp.br.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2021 Jul; Vol. 54, pp. 102434. Date of Electronic Publication: 2021 Jun 17.
DOI:	10.1016/j.scr.2021.102434
Abstrakt:	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.)
Databáze:	MEDLINE
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