Did you know that in 1995 researchers used two cell lines preserved in Coriell’s renowned biobank, the NIGMS Human Genetic Cell Repository, to make a game-changing medical discovery[1]?
An international team of researchers discovered ATM, the single gene behind ataxia telangiectasia (AT), a rare and serious neurological disease that targets systems throughout the body, such as your nervous and immune systems. Identifying this gene was a pivotal turning point for the AT community, leading to the creation of genetic tests to diagnose AT.
The discovery of ATM was hailed as the medical equivalent of the Rosetta stone when uncovered[2]. ATM not only causes this rare and devastating hereditary disorder, but it is also a cause of breast cancer, diabetes, and extreme sensitivity to radiation.
The cell lines used in this discovery, among other AT samples, remain available at Coriell today in the NIGMS Human Genetic Cell Repository.
Since the founding of this biobank in 1972, the NIGMS Repository at Coriell has been home to some of the world's most important cell lines, many of which are foundational to understanding human genetics and advancing biomedical research. Coriell is also home to several other NIH biobanks, distributing thousands of samples every year, and offering world-class research and biobanking services to scientists around the globe.
To learn more about our biobank collections, visit https://www.coriell.org/1/Browse/Biobanks.
[1] Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NG, Taylor AM, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 1995 Jun 23;268(5218):1749-53. doi: 10.1126/science.7792600. PMID: 7792600.
[2] https://pubmed.ncbi.nlm.nih.gov/7792589/
