Rescue of Premature Truncation Mutation in SYNGAP1

Project: Research project

Project Details

Description

The project is designed to generate preliminary data to support the feasibility of rescuing full-length SYNGAP1 protein in human induced pluripotent stem cell (hiPSC) derived cortical excitatory neurons that are heterozygous for a premature termination codon (nonsense) mutation. The approached used to rescue SYNGAP1 nonsense mutation involves use of anticodon edited transfer RNA (ACE-tRNA) technology.
StatusActive
Effective start/end date9/1/214/30/22

Funding

  • Soley for Syngap1 e.V. (AGMT - 10/29/2021)

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