Single gene inheritance diseases account for a large proportion of human congenital genetic diseases. Based on the current technological advances, it may be one of the most curable genetic diseases in the future through gene therapy. Thus it is particularly important to establish the corresponding disease cell models in vitro to study the pathogenesis. Theoretically, human induced pluripotent stem cells (hiPSCs) have the potential to differentiate into various cell types of three germ layers such as cardiomyocytes, Leydig cells, RPE, podocytes, islet cells, neurons, et al. So far, researchers have successfully constructed hiPSCs derived cardiomyocytes from patients with monogenic congenital heart disease (CHD) to build cell models, and it is increasingly promising to establish hiPSC lines from patients with single gene inheritance disease in vitro by reprogramming or CRISPR/Cas9 or BEmax gene editing systems. However, it remains a challenge to differentiate these hiPSCs into the desired target cells with small molecules to develop disease cell models and explore the pathogenesis of human congenital genetic diseases such as CHD. hiPSCs derived targets cells with the same genetic or mutational profiles of patients with single gene inheritance diseases provide an invaluable tool for experimental research in vitro.
The aim of this research topic is to collect current research progress on the abovementioned aspects regarding the generation and application of iPS cell models in single gene inheritance disease studies. Original Research papers, Reviews or Methods on the following topics are welcome:
• Reprogramming of human somatic cells derived from patients with single gene inheritance diseases into iPS cells.
• Generation of iPS cells with the same mutational profiles as patients with single gene inheritance diseases through CRISPR/Cas9 or BEmax gene editing system.
• Differentiation of patient derived iPS cells into the desired target cells with small molecules.
• Study on the pathogenesis of relevant single gene inheritance diseases using the established disease cell models in vitro.
• Exploring the new therapeutic approaches based on the developed disease cell models and elucidated pathogenic mechanisms.
Single gene inheritance diseases account for a large proportion of human congenital genetic diseases. Based on the current technological advances, it may be one of the most curable genetic diseases in the future through gene therapy. Thus it is particularly important to establish the corresponding disease cell models in vitro to study the pathogenesis. Theoretically, human induced pluripotent stem cells (hiPSCs) have the potential to differentiate into various cell types of three germ layers such as cardiomyocytes, Leydig cells, RPE, podocytes, islet cells, neurons, et al. So far, researchers have successfully constructed hiPSCs derived cardiomyocytes from patients with monogenic congenital heart disease (CHD) to build cell models, and it is increasingly promising to establish hiPSC lines from patients with single gene inheritance disease in vitro by reprogramming or CRISPR/Cas9 or BEmax gene editing systems. However, it remains a challenge to differentiate these hiPSCs into the desired target cells with small molecules to develop disease cell models and explore the pathogenesis of human congenital genetic diseases such as CHD. hiPSCs derived targets cells with the same genetic or mutational profiles of patients with single gene inheritance diseases provide an invaluable tool for experimental research in vitro.
The aim of this research topic is to collect current research progress on the abovementioned aspects regarding the generation and application of iPS cell models in single gene inheritance disease studies. Original Research papers, Reviews or Methods on the following topics are welcome:
• Reprogramming of human somatic cells derived from patients with single gene inheritance diseases into iPS cells.
• Generation of iPS cells with the same mutational profiles as patients with single gene inheritance diseases through CRISPR/Cas9 or BEmax gene editing system.
• Differentiation of patient derived iPS cells into the desired target cells with small molecules.
• Study on the pathogenesis of relevant single gene inheritance diseases using the established disease cell models in vitro.
• Exploring the new therapeutic approaches based on the developed disease cell models and elucidated pathogenic mechanisms.