Article
Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency
Registro en:
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.
1873-5061
10.1016/j.scr.2019.101488
Autor
Sampaio, Gabriela Louise de Almeida
Martins, Gabriele Louise Soares
Paredes, Bruno Diaz
Nonaka, Carolina Kymie Vasques
Silva, Katia Nunes da
Rossi, Erik Aranha
Santos, Ricardo Ribeiro dos
Soares, Milena Botelho Pereira
Souza, Bruno Solano de Freitas
Resumen
FAPESB and CAPES. 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.