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


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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Sampaio GLA, Martins GLS, Paredes BD, Nonaka CKV, da Silva KN, Rossi EA, Dos Santos RR, Soares MBP, Souza BSF
Journal Stem cell research
Publication Date 2019 Aug;39:101488
PubMed 31272037
DOI 10.1016/j.scr.2019.101488

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