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

Autor: Juliana Borsoi, Luis Ernesto Farinha-Arcieri, Mariana Morato-Marques, Raquel Delgado Sarafian, Mara Pinheiro, Lygia Veiga Pereira

Publikováno v: Stem Cell Research, Vol 54, Iss , Pp 102434- (2021)

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 pluri

Externí odkaz: https://doaj.org/article/915c3a787a394e8b93385394b24c3eb7

Monitoring cell line identity in collections of human induced pluripotent stem cells

Autor: Raquel Sarafian, Mariana Morato-Marques, Juliana Borsoi, Lygia Veiga Pereira

Publikováno v: Stem Cell Research, Vol 28, Iss , Pp 66-70 (2018)

The ability to reprogram somatic cells into induced pluripotent stem cells (hiPSCs) has led to the generation of large collections of cell lines from thousands of individuals with specific phenotypes, many of which will be shared among different rese

Externí odkaz: https://doaj.org/article/68852e2932e04483a79734b2a006e9c5

A Euploid Line of Human Embryonic Stem Cells Derived from a 43,XX,dup(9q),+12,-14,-15,-18,-21 Embryo.

Autor: Simone Aparecida Siqueira Fonseca, Roberta Montero Costas, Mariana Morato-Marques, Silvia Costa, Jose Roberto Alegretti, Carla Rosenberg, Eduardo Leme Alves da Motta, Paulo C Serafini, Lygia V Pereira

Publikováno v: PLoS ONE, Vol 10, Iss 11, p e0140999 (2015)

Aneuploid embryos diagnosed by FISH-based preimplantation genetic screening (PGS) have been shown to yield euploid lines of human embryonic stem cells (hESCs) with a relatively high frequency. Given that the diagnostic procedure is usually based on t

Externí odkaz: https://doaj.org/article/b2fe6291c8ff4c25bf3a9a8e23a1ea34

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

Autor: Mara Pinheiro, Lygia da Veiga Pereira, Mariana Morato-Marques, Raquel Delgado Sarafian, Luis Ernesto Farinha-Arcieri, Juliana Borsoi

Publikováno v: Stem Cell Research, Vol 54, Iss, Pp 102434-(2021)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

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 pluri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6e010b015481821f7b701bffc7c544e
http://www.sciencedirect.com/science/article/pii/S1873506121002816

Generation of 6 lines of human pluripotent stem cells from hypertensive patients and 3 lines of human pluripotent stem cell from normotensive patients

Autor: Lygia da Veiga Pereira, Raquel Delgado Sarafian, Fabiano Tófoli-Araújo, Juliana Borsoi, Mara Pinheiro, Yordanka Medina-Armenteros, Paulo A. Lotufo, Isabela M. Benseñor, Mariana Morato-Marques

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Stem Cell Research, Vol 53, Iss, Pp 102384-(2021)

Hypertension is a complex multifactorial disease characterized by a chronic increase of arterial pressure. Ninety percent of the cases are idiopathic and thus classified as essential hypertension. Uncontrolled arterial pressure has devasting conseque

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc776196af06c209b3214881c357f554
https://pubmed.ncbi.nlm.nih.gov/34088012