Journal: Frontiers in Cell and Developmental Biology
Article Title: Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling
doi: 10.3389/fcell.2024.1498669
Figure Lengend Snippet: A summary of all established human pluripotent stem cell lines for Marfan syndrome that are described in peer-reviewed articles, or deposited in online stem cell registries, being NIH stem cell registry and hPSC registry. For each line, the pathogenic variant and patient information is summarized, if available. Also, original cell source, cell types obtained by directed differentiations for disease model, method of reprogramming, availability of isogenic (ISO) control, the generator of the line and the year of publication or deposition. Abbreviations: NA (not available), United States (United States of America).
Article Snippet: MFSiPS cell line (proband FB1592) , Frameshift variant c.1642del3ins20bp , Severe reduction in FBN1 expression , Fibroblast , Osteogenic and chondrogenic fates , pMX retroviral vectors SOX2 , OCT4 , KLF4 , and c- MYC (Addgene) , No , Stanford University (United States) , 2012 , .
Techniques: Variant Assay, Control, Transduction, Retroviral, Expressing, Dissection, Plasmid Preparation, CRISPR, TALENs, Knock-Out, Virus, Functional Assay, shRNA, Biomarker Discovery