Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock  or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Scientists identify a reference stem cell for studying neurodegenerative disease gene variants

With the help of an international team of researchers, scientists at the National Institutes of Health (NIH) Center for Alzheimer’s and Related Dementias (CARD) identified a line of stem cells that can be used as a reference for studying the gene variants behind Alzheimer’s disease, frontotemporal dementia, and several other neurodegenerative disorders. The cells will help scientists world-wide study how these variants damage the nervous system in a uniform genetic background.

The cell line, called KOLF2.1J, was derived from human skin cells and reprogrammed, or induced, into pluripotent stem cells. Compared with eight other candidates, the KOLF2.1J cells have several characteristics that meet the needs of a reference line. In particular, the cells do not contain any known neurodegenerative disease gene variants, they can be grown into a variety of neurons and other brain cell types, and scientists can use advanced, CRISPR/Cas9 editing technology to introduce gene mutations with minimal damage to other parts of the cell’s chromosomes.

The results of this study were published in Cell Stem Cell. The study was conducted as part of CARD’s induced Pluripotent Stem Cell (iPSC) Neurodegenerative Disease Initiative (iNDI).

Scientists can purchase samples of these cells from The Jackson Laboratory. They can also obtain complimentary genetic sequencing data generated by the study from the Alzheimer’s Disease Data Initiative’s (ADDI) Alzheimer’s Disease Workbench, a data sharing and analysis platform:

This project is funded in part by the NIH Intramural Research Program (1ZIAAG000535).

The NIH component is led by Mark Cookson, Ph.D., a senior investigator at the NIH National Institute on Aging; Michael E. Ward, Ph.D., an investigator at the NIH National Institute of Neurological Disorders and Stroke ; and Andrew B. Singleton, Ph.D., NIH CARD director and an NIH distinguished investigator.

Reference: Pantazis CB, et al. A reference induced pluripotent stem cell line for large-scale collaborative studies. Cell Stem Cell; 29:1685–1702. doi: Dec. 1, 2022.