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1Science AnimatedCLOVES Syndrome Community: What are human induced pluripotent stem cel...1312846.14:49Clove syndrome is a genetic disease caused by mutation of the PIC3 CA gene, which results in tissue overgrowth and blood vessel irregularity. The vision of clove syndrome community is to improve the quality of life of those affected by clove syndrome. To carry out careful assessment and consulting outside experts, CSC identified a gap in the clove's research strategy. They have therefore formed external research partnerships with the aim of developing new models to help improve understanding of clove's and its many manifestations, as well as to create tools to combat the disease. One of these tools is a cell model called induced pluripotent stem cells. These are the building blocks of all human tissues, the muscles, organs and even the brain are made up of billions of cells, each of which has its own specific function. Early in a person's development, as far back as the embryo stage, many cells don't yet have a specific function. These are called embryonic stem cells and have the characteristic of being pluripotent, meaning they can become any cell in the body. Cells have studied these cells to better understand how tissues in the body develop and how they respond to different stimuli. Pluripotent stem cells can only be collected from embryos. Cells collected at later stages of development are already assigned to a specific tissue, such as skin or bones. This limits their use in developmental research as they're already destined to become and remain one type of cell. Human researchers extract cells from embryos, they usually do this on animals, as doing this on human embryos brings an ethical dilemma. However, results from animal studies don't always translate to humans. Therefore, using human cells is the best research approach. How can researchers study human development and disease without using stem cells from human embryos? Researchers overcame this obstacle in 2006 when they discovered that mature human cells could transform into stem cells under certain conditions through a process called reprogramming. These reprogrammed cells are called induced pluripotent stem cells or IPSCs or human induced pluripotent stem cells, HIPSCs, when the original tissue is from humans. This breakthrough has allowed researchers to study the human specific development and disease. To generate HIPSCs, researchers take a biopsy from a patient and set apart a single type of cell, such as a skin cell. They then reprogram these isolated material cells, turning them into HIPSCs using just full proteins. Under the right conditions, HIPSCs can become any type of cell in the body. Most of these researchers need to make a few modifications to the DNA of HIPSCs, such as adding or removing a pick-3CA mutation. Once they've made these modifications, they can store the HIPSCs and use them as required. A key advantage is that both the variant and normal HIPSCs have the same origins, which means the healthy and clove cells can be directly compared. These can now use HIPSCs to examine the particular tissues affected in clove syndrome, such as the blood vessels or skin. By culturing healthy and clove's affected cells together, researchers can also investigate how healthy cells and variant cells communicate. They can also apply pharmacological treatments to the transformed cells, for example the breast cancer medication, a palliative or apomycin, which have shown promising combating clove. Additionally, researchers can screen new compounds on HIPSC-derived cells for use as clove's treatments, helping to expand the range of available treatments for clove's. Clove syndrome community is not only advancing HIPSC research, but we're also invested in creating other research methods for scientists to use. Check back here for future updates on the clove's tools we're developing at CSC.