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.
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.
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DOI：
10.1016/j.scr.2018.101374
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发表时间：
2019-01
影响因子：
1.2
通讯作者：
Rong Li;Amanda Baskfield;Yongshun Lin;J. Beers;J. Zou;Chengyu Liu;F. Jaffré;A. Roberts;E. Ottinger;M. Kontaridis;Wei Zheng
中科院分区：
文献类型：
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作者：
Rong Li;Amanda Baskfield;Yongshun Lin;J. Beers;J. Zou;Chengyu Liu;F. Jaffré;A. Roberts;E. Ottinger;M. Kontaridis;Wei Zheng
努南综合征伴多发性雀斑样痣（NSML），以前称为LEOPARD综合征，是一种罕见的常染色体显性遗传病。大约90%的NSML病例是由编码蛋白酪氨酸磷酸酶SHP 2的PTPN 11基因的错义突变引起的。使用非整合仙台病毒技术，使用来自NSML患者的外周血单个核细胞（PBMC）产生人诱导多能干细胞（iPSC）系，该NSML患者在PTPN 11基因上携带p.Q510P基因突变。该iPSC系为研究疾病病理生理学提供了有用的资源，并为治疗NSML的药物开发提供了基于细胞的模型。
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 thePTPN11gene 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 thePTPN11gene 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.