# Neurodevelopmental Stem Cell core

> **NIH NIH P50** · NORTHWESTERN UNIVERSITY · 2024 · $243,130

## Abstract

ABSTRACT – CORE B
Synaptic GEF and GAPs have emerged as significant players in neurodevelopmental disorders (NDDs).
While a large number of clinical variants have been reported in these genes in patients with NDDs, their
molecular and cellular consequences have not been systematically analyzed. The precise biological
functions of synaptic GEF and GAP in human neuronal subtypes remain unclear, while there are no chemical
tool compounds that can acutely manipulate their catalytic activity. Recent advances in the generation and
differentiation of patient-specific induced pluripotent stem cells (iPSCs) offer new opportunities for
elucidating the pathogenic mechanisms of NDDs. Certain unique capabilities of iPSC technologies are well
suited for the study of NDDs, including providing a platform for examining the effects of genetic approaches
or chemical probes on human neuron activity, morphology, and developmental processes, and enabling
investigations of distinct human neuronal subtypes. Our Center proposes to study genetic variants in human
synaptic GEF and GAP genes and their associated phenotypes in human iPSC-derived neurons. The
overarching goal of Core B is to provide high quality, efficient and cost-effective services to Center members
related to iPSC technologies. Core B will have an exclusive focus on the neurobiology of NDDs. Core B will
align with the goals of Projects 1 and 2 to interrogate NDD-relevant cellular and network phenotypes. All
data and cell lines generated by the Neurodevelopmental Stem Cell Core will be shared with the members
of our Center and the broader academic community. The specific aims of the Neurobiology Stem Cell Core
(Core B) are: 1) To generate, perform QC, expand and maintain high-quality iPSC lines. 2) To perform
CRISPR mutagenesis to generate isogenic lines with high-priority missense and nonsense mutations. 3) To
generate human iPSC-derived excitatory/inhibitory neuron cocultures.

## Key facts

- **NIH application ID:** 10862390
- **Project number:** 1P50MH132775-01A1
- **Recipient organization:** NORTHWESTERN UNIVERSITY
- **Principal Investigator:** Evangelos Kiskinis
- **Activity code:** P50 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $243,130
- **Award type:** 1
- **Project period:** 2024-05-01 → 2029-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10862390

## Citation

> US National Institutes of Health, RePORTER application 10862390, Neurodevelopmental Stem Cell core (1P50MH132775-01A1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10862390. Licensed CC0.

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