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

Rong Li; Amanda Baskfield; Yongshun Lin; Jeanette Beers; Jizhong Zou; Chengyu Liu; Fabrice Jaffré; Amy E. Roberts; Elizabeth A. Ottinger; Maria I. Kontaridis; Wei Zheng

Stem Cell Research (Jan 2019)

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

Rong Li,
Amanda Baskfield,
Yongshun Lin,
Jeanette Beers,
Jizhong Zou,
Chengyu Liu,
Fabrice Jaffré,
Amy E. Roberts,
Elizabeth A. Ottinger,
Maria I. Kontaridis,
Wei Zheng

Affiliations

Rong Li: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA
Amanda Baskfield: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA
Yongshun Lin: iPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Jeanette Beers: iPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Jizhong Zou: iPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Chengyu Liu: Transgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Fabrice Jaffré: 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
Amy E. Roberts: Department of Cardiology, Boston Children's Hospital, Boston, MA, USA
Elizabeth A. Ottinger: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA
Maria I. Kontaridis: 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; Correspondence to: M. I. Kontaridis, Masonic Medical Research Institute, 2150 Bleecker Street, Utica, NY 13501, United States.
Wei Zheng: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA; Correspondence to: W. Zheng, National Center for Advancing Translational Sciences, National Institutes of Health, 9800 Medical Center Drive, Bethesda, MD 20892, United States.

Journal volume & issue: Vol. 34

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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