Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene
Year: 2018
Type: article
Abstract: Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD Syndrome, is a rare autosomal dominant disorder. Approximately 90% of NSML cases are caused by missense mutations in the PTPN11 gene which encodes the protein tyrosine phosphatase SHP2. A human induced pluripotent stem cell (iPSC) line was generated using peripheral blood mononuclear cells (PBMCs) from a patient with NSML that carries a gene mutation of p.Q510P on the PTPN11 gene using non-integrating Sendai virus technique. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for drug development to treat NSML.
Source: Stem Cell Research
Institutions: National Institutes of Health, National Center for Advancing Translational Sciences, National Institutes of Health Clinical Center, National Heart, Lung, and Blood Institute, Beth Israel Deaconess Medical Center, Weill Cornell Medicine, Boston Children's Hospital, Harvard University, Masonic Medical Research Laboratory
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,360
OpenAlex ID: W2906017163