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Stem Cell Res. 2019 Aug;39:101488. doi: 10.1016/j.scr.2019.101488. Epub 2019 Jun 25.

Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency.

Author information

1
Center for Biotechnology and Cell Therapy, São Rafael Hospital, Salvador, BA, Brazil; Gonçalo Moniz Institute, FIOCRUZ, Salvador, BA, Brazil. Electronic address: bruno.souza@bahia.fiocruz.br.
2
Center for Biotechnology and Cell Therapy, São Rafael Hospital, Salvador, BA, Brazil; Gonçalo Moniz Institute, FIOCRUZ, Salvador, BA, Brazil.
3
Center for Biotechnology and Cell Therapy, São Rafael Hospital, Salvador, BA, Brazil; National Institute of Science and Technology for Regenerative Medicine, Rio de Janeiro, RJ, Brazil; D'Or Institute for Research and Education (IDOR), Rio de Janeiro, RJ, Brazil.
4
Center for Biotechnology and Cell Therapy, São Rafael Hospital, Salvador, BA, Brazil; D'Or Institute for Research and Education (IDOR), Rio de Janeiro, RJ, Brazil.
5
Center for Biotechnology and Cell Therapy, São Rafael Hospital, Salvador, BA, Brazil; Gonçalo Moniz Institute, FIOCRUZ, Salvador, BA, Brazil; D'Or Institute for Research and Education (IDOR), Rio de Janeiro, RJ, Brazil.
6
Gonçalo Moniz Institute, FIOCRUZ, Salvador, BA, Brazil; National Institute of Science and Technology for Regenerative Medicine, Rio de Janeiro, RJ, Brazil.
7
Center for Biotechnology and Cell Therapy, São Rafael Hospital, Salvador, BA, Brazil; Gonçalo Moniz Institute, FIOCRUZ, Salvador, BA, Brazil; National Institute of Science and Technology for Regenerative Medicine, Rio de Janeiro, RJ, Brazil; D'Or Institute for Research and Education (IDOR), Rio de Janeiro, RJ, Brazil.

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.

PMID:
31272037
DOI:
10.1016/j.scr.2019.101488
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