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

Publication date: Available online 25 June 2019Source: Stem Cell ResearchAuthor(s): Gabriela Louise de Almeida Sampaio, Gabriele Louise Soares Martins, Bruno Diaz Paredes, Carolina Kymie Vasques Nonaka, Katia Nunes da Silva, Erik Aranha Rossi, Ricardo Ribeiro dos Santos, Milena Botelho Pereira Soares, Bruno Solano de Freitas SouzaAbstractAutism 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research