|Erica Keane working in the lab of Ken Kosik at UCSB. She submitted this photo through Instagram to CIRM's #CIRMStemCellLab collection|
Williams syndrome effects 1 in 10,000 people born in the US. People with Williams syndrome die early due to heart attacks, strokes, and other complications. Despite mental retardation, people with Williams syndrome exhibit very social personalities and highly developed verbal skills. Scientists are not sure why there is the combination of low IQs and high verbal skills but hopefully future research will shed light on this peculiarity.
To verify the stem cell line I carried out a number of tests. The Williams syndrome skin cells that had been genetically reprogrammed into an undecided state were first Karyotyped for a quality check. This was to make sure that no macroscopic damage had occurred to the chromosomes during reprogramming. Then I carried out bisulfite conversion to check the methylation status of the Oct4 promoter. This was to make sure that the reprogramming was successful on an epigenetic level. Next, we used ICC (immunocytochemistry) to check for self-renewal marker expression. This consisted of staining the cells and looking for certain embryonic stem cell markers under a fluorescent microscope. These markers are necessary to maintain the undecided state. Lastly, we made sure that the iPSCs could differentiate into the three germ layers that are found in an embryo. We did this by again using ICC but this time looking for markers in each germ layer.
Since all of our tests proved that the cells are in fact induced pluripotent stem cells, the line can now be used to model Williams syndrome. The line can also be used to model other disease but my research will first have an impact of gaining a better understanding of Williams syndrome.
Erica sent us this video of her experience: