Article
Duplication Versus Deletion Through the Lens of 15q13.3: Clinical and Research Implications of Studying Copy Number Variants Associated with Neuropsychiatric Disorders in Induced Pluripotent Stem Cell-Derived Neurons.
Stem cell reviews and reports - 1 Apr 2023
Antony Irene, Narasimhan Mishka, Shen Renata, Prakasam Ramachandran, Kaushik Komal, Chapman Gareth, Kroll Kristen L
Abstract excerpt
Copy number variants (CNVs), involving duplication or deletion of susceptible intervals of the human genome, underlie a range of neurodevelopmental and neuropsychiatric disorders. As accessible in vivo animal models of these disorders often cannot be generated, induced pluripotent stem cell (iPSC) models derived from patients carrying these CNVs can reveal alterations of brain development and neuronal function...
Topics
- Animals
- Humans
- DNA Copy Number Variations
- Induced Pluripotent Stem Cells
- Autism Spectrum Disorder
- Neurons
- Phenotype