Increased Ca²⁺ signaling in NRXN1α^+/- neurons derived from ASD induced pluripotent stem cells.

ABSTRACT:

Background

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high co-morbidity of epilepsy and associated with hundreds of rare risk factors. NRXN1 deletion is among the commonest rare genetic factors shared by ASD, schizophrenia, intellectual disability, epilepsy, and developmental delay. However, how NRXN1 deletions lead to different clinical symptoms is unknown. Patient-derived cells are essential to investigate the functional consequences of NRXN1 lesions to human neurons in different diseases.

Methods

Skin biopsies were donated by five healthy donors and three ASD patients carrying NRXN1α^+/- deletions. Seven control and six NRXN1α^+/- iPSC lines were derived and differentiated int

SUBMITTER: Avazzadeh S 

PROVIDER: S-EPMC6937972 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature