Thesis / Dissertation

The Use of Pluripotent Stem Cells (PSCs) and CRISPR Genome Editing to Study the Roles of TRPV4 Ion Channels in Skeletal Malformation

Yudha Nur Patria, Shireen Lamande (ed.)

Published : 2019


Transient Receptor Potential Vanilloid 4 (TRPV4) is a non-selective calcium channel that plays an important role in the mechanotransduction system in chondrocytes. Heterozygous TRPV4 mutations cause skeletal disorders with varying severity. Heterologous cells such as fibroblasts and HEK-293 cells are commonly used to model TRPV4-inherited skeletal diseases in vitro. Studies using human chondrocytes are limited because cartilage is rarely available from patients and controls. Although heterologous cells cannot completely recapitulate the biological processes occurring in human chondrocytes, the studies show that two distinct disease phenotypes, TRPV4 skeletal dysplasia and arthropathy, might ..

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