A disease cell line library

Written byAndrea Gawrylewski

| 2 min read

Researchers have created 20 disease-specific pluripotent cell lines by reprogramming skin and bone marrow cells from patients with genetic disorders, they report in a paper to be published tomorrow in Cell. "These cells will be an incredible resource for those interested in studying the root causes of these diseases," wrote linkurl:Kevin Eggan,;http://golgi.harvard.edu/Faculty/Eggan.html Harvard researcher who was not involved in the study, in an Email to The Scientist. The researchers, led by linkurl:George Daley;http://daley.med.harvard.edu/ at Harvard University, reprogrammed the cells (called iPS cells) using linkurl:four reprogramming factors,;http://www.the-scientist.com/blog/display/53873/ OCT4, SOX2, KLF4 and c-Myc, and then evaluated each cell line for pluripotency. Of the 20 disease-specific cell lines created, 10 have been fully characterized as genetic matches to the specific disease. For these cell lines the researchers took cells from patients of both sexes who ranged in age from 1 month to 57 years. The diseases represented in the cell lines include Down syndrome, Parkinson disease, and Huntington disease. "This will allow researchers for the first time to get access to the cell type of interest which is defective in a disease, and more importantly to watch the cells' progress in a dish -- what goes right or wrong," Harvard's linkurl:Douglas Melton,;http://www.mcb.harvard.edu/faculty/melton.html who was not involved in the study, told reporters on a teleconference. Melton announced that the university has established an iPS core facility that will be developing the cell lines and distributing them to researchers for a nominal fee. A paper linkurl:last week;http://www.the-scientist.com/blog/display/54904/ by Eggan's group established that disease-specific iPS cells could be made from patients with Amyotrophic Lateral Sclerosis. This new paper is an "exciting and immediate confirmation of our ability to produce stem cells from patients with a variety of diseases using this reprogramming strategy," Eggan said. While the researchers confirmed that each of the 10 pluripotent stem cell lines had the affected genes of the particular disease, they didn't differentiate all of the lines into corresponding tissues. However, "we did show blood development from one of the blood condition [cell] lines as a proof of principle," Daley said on the teleconference. What researchers don't yet know is how the four genes used to reprogram the cells, which are linkurl:known to be tumorigenic,;http://www.the-scientist.com/blog/display/54750/ will affect the cells after they differentiate. During the reprogramming process the transgenes get transcriptionally silenced, Daley added. So far evidence suggests that they won't get turned back on, but that's a control assay that scientists who use these cells will have to build into their experiments. "They'll have to show they haven't reactivated c-Myc or KL4," he said.

A disease cell line library

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