# Core B - Mutagenesis and cell expression core

> **NIH NIH U54** · NORTHWESTERN UNIVERSITY · 2021 · $362,284

## Abstract

PROJECT SUMMARY – Core B
Our Center proposes to study a large number of previously uncharacterized epilepsy-associated genetic
variants in human ion channels using a high-throughput strategy (Project 1). We also propose to generate
novel mouse models of prototypical variants after we demonstrate that mutant mouse ion channels exhibit
patterns of dysfunction similar to the corresponding human variant (Project 3). Both of these research
endeavors will rely heavily upon the engineering of variants in recombinant ion channels and the generation of
expression systems in heterologous cultured cells. In addition, Project 3 requires the design and construction
of targeting vectors for generation of novel mouse models using genome editing technologies. The
Mutagenesis and Cell Expression Core (Core B) will be responsible for these two activities.
To accomplish this work in an efficient, cost-effective, and rigorous manner, Core B will exploit standardized
high-throughput workflows for site-directed mutagenesis and heterologous cell transfection that unite
innovative technologies with economies of scale. The specific variants to be generated will be determined by
the Variant Prioritization and Curation Core (Core A). Service activities will be distributed between the
Translational Neurobiology program at the Broad Institute of Harvard University and MIT and the Department
of Pharmacology at Northwestern University to take advantage of advanced recombinant DNA and cell
engineering expertise on these two campuses. Core B will provide the following services: 1) to engineer
recombinant human ion channel plasmids and variants for functional evaluation; 2) to generate and distribute
heterologous cells transiently or stably expressing human ion channel variants; and 3) to generate and
heterologously express prototypical mouse ion channel variants for comparison with the corresponding human
variants and to construct murine targeting vectors.

## Key facts

- **NIH application ID:** 10247555
- **Project number:** 5U54NS108874-04
- **Recipient organization:** NORTHWESTERN UNIVERSITY
- **Principal Investigator:** Jen Qian Pan
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $362,284
- **Award type:** 5
- **Project period:** 2018-09-30 → 2023-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10247555

## Citation

> US National Institutes of Health, RePORTER application 10247555, Core B - Mutagenesis and cell expression core (5U54NS108874-04). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10247555. Licensed CC0.

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