Published online May 26, 2024. doi: 10.4252/wjsc.v16.i5.512
Revised: January 29, 2024
Accepted: April 1, 2024
Published online: May 26, 2024
Processing time: 162 Days and 23.2 Hours
Human induced pluripotent stem cell (hiPSC) technology is a valuable tool for generating patient-specific stem cells, facilitating disease modeling, and investigating disease mechanisms. However, iPSCs carrying specific mutations may limit their clinical applications due to certain inherent characteristics.
To investigate the impact of MERTK mutations on hiPSCs and determine whether hiPSC-derived extracellular vesicles (EVs) influence anomalous cell junction and differentiation potential.
We employed a non-integrating reprogramming technique to generate peripheral blood-derived hiPSCs with and hiPSCs without a MERTK mutation. Chromo
The generated hiPSCs, both with and without a MERTK mutation, exhibited normal karyotype and expressed pluripotency markers; however, hiPSCs with a MERTK mutation demonstrated anomalous adhesion capability and differentiation potential, as confirmed by transcriptomic and proteomic profiling. Furthermore, hiPSC-derived EVs were involved in various biological processes, including cell junction and differentiation.
HiPSCs with a MERTK mutation displayed altered junction characteristics and aberrant differentiation potential. Furthermore, hiPSC-derived EVs played a regulatory role in various biological processes, including cell junction and differentiation.
Core Tip: Patient-specific human induced pluripotent stem cell (hiPSC) technology is a valuable tool for disease modeling and the investigation of disease mechanisms, but altered biological properties caused by pathogenic genes may limit hiPSC applications. Through transcriptomics and proteomics, this study revealed cell junction abnormalities and aberrant cellular differentiation potential in hiPSCs with a MERTK mutation. Furthermore, the profiles of hiPSC-derived extracellular vesicles collected for transcriptomic and proteomic analysis indicated their involvement in the changes of biological characteristics occurring in hiPSCs.