VALIDATION OF DERIVED INDUCED PLURIPOTENT STEM CELLS WITH UBIQUILIN 2 MUTATION

Amyotrophic lateral sclerosis (ALS) is a lethal motor neuron disease, and frontotemporal dementia (FTD) is a common form of dementia. Two seemingly unrelated diseases have been found to be on the spectrum of the same disorder. Despite this discovery, the understanding of both ALS and FTD is still poor. Throughout the year, many different genetic mutations have been linked to both ALS and FTD, further confirming the link between these two diseases while also providing scientists new opportunities to study the disease pathology. A 2011 study on a set familial ALS cases identified a novel mutation in Ubiquilin 2 (UBQLN2) as a potential contribution to the onset of ALS-FTD disorder. Ubiquilin 2 gene has been involved in protein quality control and other functions related to neurodegenerative diseases. Our lab developed human-induced pluripotent stem (iPS) cells carrying wild-type UBQLN2 gene and ALS-related UBQLN2 gene mutations. These iPS cells can later be differentiated into motor neurons and allow us to use them in studying the pathological mechanism of UBQLN2 mutations and their potential effect on the overall viability of motor neurons. In this report, we examined the validity of these iPS cells by checking mycoplasma contamination, off-target CRISPR editing, and the expression of pluripotency maker proteins