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Stem Cell Res. 2019 Jan;34:101374. doi: 10.1016/j.scr.2018.101374. Epub 2018 Dec 26.

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.

Author information

1
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
2
iPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
3
Transgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
4
Department of Surgery, Weill Cornell Medical College, New York, NY, USA; Department of Medicine, Division of Cardiology, Beth Israel Deaconess Medical Center, Boston, MA, USA.
5
Department of Cardiology, Boston Children's Hospital, Boston, MA, USA.
6
Department of Medicine, Division of Cardiology, Beth Israel Deaconess Medical Center, Boston, MA, USA; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA; Masonic Medical Research Institute, Utica, NY, USA. Electronic address: mkontaridis@mmri.edu.
7
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: wei.zheng@nih.gov.

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.

PMID:
30640061
DOI:
10.1016/j.scr.2018.101374
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