Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome.

ABSTRACT:

Background

Williams-Beuren Syndrome (WBS) is caused by the microdeletion of approximately 25 genes on chromosome 7q11.23, and is characterized by a spectrum of cognitive and behavioural features.

Results

We generated cortical neurons from a WBS individual and unaffected (WT) control by directed differentiation of induced pluripotent stem cells (iPSCs). Single cell mRNA analyses and immunostaining demonstrated very efficient production of differentiated cells expressing markers of mature neurons of mixed subtypes and from multiple cortical layers. We found that there was a profound alteration in action potentials, with significantly prolonged WBS repolarization times and a WBS deficit in voltage-activated K(+) currents. Miniature excitatory synaptic currents were normal, indi

SUBMITTER: Khattak S 

PROVIDER: S-EPMC4657290 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature