Author | Sampaio, Gabriela Louise de Almeida | |
Author | Martins, Gabriele Louise Soares | |
Author | Paredes, Bruno Diaz | |
Author | Nonaka, Carolina Kymie Vasques | |
Author | Silva, Katia Nunes da | |
Author | Rossi, Erik Aranha | |
Author | Santos, Ricardo Ribeiro dos | |
Author | Soares, Milena Botelho Pereira | |
Author | Souza, Bruno Solano de Freitas | |
Access date | 2019-07-31T18:43:00Z | |
Available date | 2019-07-31T18:43:00Z | |
Document date | 2019 | |
Citation | SAMPAIO, Gabriela Louise de Almeida et al. Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency. Stem Cell Research, v. 39, p. 1-5, 2019. | pt_BR |
ISSN | 1873-5061 | pt_BR |
URI | https://www.arca.fiocruz.br/handle/icict/34551 | |
Sponsorship | FAPESB and CAPES. | pt_BR |
Language | eng | pt_BR |
Publisher | Elsevier | pt_BR |
Rights | open access | pt_BR |
Subject in Portuguese | Células-tronco | pt_BR |
Subject in Portuguese | Autismo | pt_BR |
Subject in Portuguese | Haploinsuficiência | pt_BR |
Subject in Portuguese | Células estromais mesenquimais | pt_BR |
Subject in Portuguese | Humanos | pt_BR |
Title | Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency | pt_BR |
Type | Article | pt_BR |
DOI | 10.1016/j.scr.2019.101488 | |
Abstract | Autism spectrum disorders (ASDs) are a group of diseases that affect social interaction, communication and behavior. Molecular mechanisms involved in the pathogenesis of ASDs are complex due to genetic heterogeneity. Recently, pathogenic variants of SCN2A have been strongly associated with ASDs. Here, we generated iPSCs from a patient with ASD and a heterozygous nonsense mutation in SCN2A, by reprogramming mesenchymal stromal cells with non-integrating vectors. The generated iPSC line expresses pluripotency markers, presents a normal karyotype and is able to differentiate into the three germ layers. This iPSC line is a useful tool for modeling ASD and drug screening studies. | pt_BR |
Affilliation | São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil. | pt_BR |
Affilliation | São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil. | pt_BR |
Affilliation | São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / National Institute of Science and Technology for Regenerative Medicine. Rio de Janeiro, RJ, Brazil / D'Or Institute for Research and Education. Rio de Janeiro, RJ, Brazil. | pt_BR |
Affilliation | São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / D'Or Institute for Research and Education. Rio de Janeiro, RJ, Brazil. | pt_BR |
Affilliation | São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil / D'Or Institute for Research and Education. Rio de Janeiro, RJ, Brazil. | pt_BR |
Affilliation | São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / D'Or Institute for Research and Education. Rio de Janeiro, RJ, Brazil. | pt_BR |
Affilliation | Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil / National Institute of Science and Technology for Regenerative Medicine. Rio de Janeiro, RJ, Brazil. | pt_BR |
Affilliation | Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil / National Institute of Science and Technology for Regenerative Medicine. Rio de Janeiro, RJ, Brazil. | pt_BR |
Affilliation | São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil / National Institute of Science and Technology for Regenerative Medicine. Rio de Janeiro, RJ, Brazil / D'Or Institute for Research and Education. Rio de Janeiro, RJ, Brazil. | pt_BR |
Subject | Stem Cells | pt_BR |
Subject | Autistic Disorder | pt_BR |
Subject | Haploinsufficiency | pt_BR |
Subject | Mesenchymal Stem Cells | pt_BR |
Subject | Humans | pt_BR |