Use este identificador para citar ou linkar para este item:
https://www.arca.fiocruz.br/handle/icict/34551
GENERATION OF AN INDUCED PLURIPOTENT STEM CELL LINE FROM A PATIENT WITH AUTISM SPECTRUM DISORDER AND SCN2A HAPLOINSUFFICIENCY
Autistic Disorder
Haploinsufficiency
Mesenchymal Stem Cells
Humans
Autor(es)
Afiliação
São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil.
São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil.
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.
São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / D'Or Institute for Research and Education. Rio de Janeiro, RJ, Brazil.
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.
São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / D'Or Institute for Research and Education. Rio de Janeiro, RJ, Brazil.
Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil / National Institute of Science and Technology for Regenerative Medicine. Rio de Janeiro, RJ, Brazil.
Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil / National Institute of Science and Technology for Regenerative Medicine. Rio de Janeiro, RJ, Brazil.
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.
São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil.
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.
São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / D'Or Institute for Research and Education. Rio de Janeiro, RJ, Brazil.
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.
São Rafael Hospital. Center for Biotechnology and Cell Therapy. Salvador, BA, Brazil / D'Or Institute for Research and Education. Rio de Janeiro, RJ, Brazil.
Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil / National Institute of Science and Technology for Regenerative Medicine. Rio de Janeiro, RJ, Brazil.
Oswaldo Cruz Foundation. Gonçalo Moniz Institute. Salvador, BA, Brazil / National Institute of Science and Technology for Regenerative Medicine. Rio de Janeiro, RJ, Brazil.
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.
Resumo em Inglês
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.
Palavras-chave em inglês
Stem CellsAutistic Disorder
Haploinsufficiency
Mesenchymal Stem Cells
Humans
Compartilhar