Abstract
NRXN1 deletions are commonly found in autism spectrum disorder (ASD) and other neurodevelopmental/neuropsychiatric disorders. Derivation of induced pluripotent stem cells (iPSCs) from different diseases involving different deletion regions are essential, as NRXN1 may produce thousands of splicing variants. We report here the derivation of iPSCs from a sibling control and an ASD proband carrying de novo heterozygous deletions in the middle region of NRXN1, using a non-integrating Sendai viral kit. The genotype and karyotype of the iPSCs were validated by whole genome SNP array. All iPSC lines highly expressed pluripotency markers and could be differentiated into three germ layers.
Highlights
NRXN1 deletions are commonly found in autism spectrum disorder (ASD) and other neurodevelopmental/neuropsychiatric disorders
Resource utility The ND1 induced pluripotent stem cells (iPSCs) from an ASD patient at the severe end of ASD spec trum may add to resources for coupling NRXN1 regions with the severity of clinical and cellular phenotype
Autism spectrum disorder (ASD) is a common neurodevelopmental disorder associated with a spectrum of core clinical symptoms and an array of central and peripheral comorbidities, different in dividuals may have different types and/or severity of clinical pre sentations (Reilly et al, 2017)
Summary
The ND1 iPSCs from an ASD patient at the severe end of ASD spec trum may add to resources for coupling NRXN1 regions with the severity of clinical and cellular phenotype. The sibling control iPSC lines may minimize genetic background effects and help creation of closely related isogenic lines for phenotypic validation
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