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

被引：8

作者：

Li, Rong ^{[1
]}

Baskfield, Amanda ^{[1
]}

Lin, Yongshun ^{[2
]}

Beers, Jeanette ^{[2
]}

Zou, Jizhong ^{[2
]}

Liu, Chengyu ^{[3
]}

Jaffre, Fabrice ^{[4
]}

Roberts, Amy E. ^{[5
]}

Ottinger, Elizabeth A. ^{[1
]}

Kontaridis, Maria I. ^{[6
,7
,8
]}

Zheng, Wei ^{[1
]}

机构：

[1] NIH, Natl Ctr Adv Translat Sci, 9800 Med Ctr Dr, Bethesda, MD 20892 USA

[2] NHLBI, IPSC Core, NIH, Bldg 10, Bethesda, MD 20892 USA

[3] NHLBI, Transgen Core, NIH, Bldg 10, Bethesda, MD 20892 USA

[4] Weill Cornell Med Coll, Dept Surg, New York, NY USA

[5] Boston Childrens Hosp, Dept Cardiol, Boston, MA USA

[6] Beth Israel Deaconess Med Ctr, Div Cardiol, Dept Med, Boston, MA 02215 USA

[7] Harvard Med Sch, Dept Biol Chem & Mol Pharmacol, Boston, MA 02115 USA

[8] Mason Med Res Inst, 2150 Bleecker St, Utica, NY 13501 USA

来源：

STEM CELL RESEARCH | 2019年 / 34卷

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1016/j.scr.2018.101374

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

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.

引用

页数：5

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