Research
iPSC Cell Model Development
Dr. Erin Eun-Young Ahn, Ph.D.
University of Alabama at Birmingham
Started January 2024
Funding
Foundation-funded; iPSC lines to be deposited in public biobanks for global researcher access
Creating the first ZTTK-derived induced pluripotent stem cell lines with matched isogenic controls, enabling researchers worldwide to study disease mechanisms across neuronal, immune, and other cell types.
The foundation initiated this project to develop induced pluripotent stem cells derived from ZTTK patients — representing a first-of-its-kind resource for the ZTTK research community. Patient-derived skin or blood cells are reprogrammed into stem cells capable of differentiating into virtually any cell type, including neurons, immune cells, and gut epithelial cells.
Each patient-derived iPSC line is paired with an isogenic control — a genetically matched cell line where the SON mutation has been corrected using CRISPR editing. This pairing allows researchers to isolate the effects of the SON mutation from other genetic background differences, producing cleaner and more reproducible experimental results.
Once high-quality stem cell populations are established and validated, the lines will be deposited into public biobanks so researchers globally can access them. This approach multiplies the impact of a single foundation investment by enabling dozens of independent research programs.