The unique upcyte® technology is not limited to the application to healthy human cells but can also be used to generate upcyte® cells of diseased origin.
For a proof-of-principle experiment, upcyte technologies applied the upcyte® technology to hepatocytes derived from patients with primary hyperoxaluria (PH, a rare, autosomal-recessively disease). This condition is characterized by the overproduction of oxalat (also known as oxalic acid) inside the patient's hepatocytes. This leads to a buildup of calcium oxalate inside the patient's kidney, which is the main component of kidney stones. Finally those deposits of calcium oxalate can cause kidney damage, kidney failure and harm other organs in addition.
We successfully generated 3 donors diseased upcyte® Hepatocytes which carry different mutations/deletions inside the AGT gene.
Examples of mutation in this gene are a homozygous deletion of exon 6 - 8 inside the AGT gene and homozygous missense mutations at position 170 and 319 respectively.
The upcyte process is not only applicable to hepatocytes. Send us your cell type and donor of choice - we upcyte. Please find more info under Service.