从一名携带NF1突变的1型神经纤维瘤病患者中生成诱导多能干细胞系。
Generation of an induced pluripotent stem cell line from a type 1 neurofibromatosis patient with NF1 mutation.
作者信息
Xin Hongmei, Li Yixiao, Zhang Kaihui, Ji Aihua, Fan Meili
机构信息
Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan 250022, China.
Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan 250022, China; Department of Ophthalmology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250001, China.
出版信息
Stem Cell Res. 2024 Dec;81:103568. doi: 10.1016/j.scr.2024.103568. Epub 2024 Sep 20.
A human induced pluripotent stem cell (iPSC) line was generated from patient with type 1 neurofibromatosis (NF-1), carrying heterozygous mutation in NF1 gene. Peripheral blood mononuclear cells (PBMCs) were reprogrammed using non-integrating delivery of KFL4, OCT4, SOX2, BCL-XL and c-MYC. The iPSC line expresses pluripotency markers, displays a normal karyotype, and is able to differentiate into three germ layers in vitro. This iPSC line represents a valuable cell model for NF1 in humans.
从1型神经纤维瘤病（NF-1）患者中产生了人诱导多能干细胞（iPSC）系，该患者的NF1基因携带杂合突变。使用KFL4、OCT4、SOX2、BCL-XL和c-MYC的非整合递送对外周血单个核细胞（PBMC）进行重编程。该iPSC系表达多能性标志物，显示正常核型，并且能够在体外分化为三个胚层。该iPSC系代表了人类NF1的宝贵细胞模型。
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