从一名患有McArdle病且携带c.2392 T>C；p.Trp798Arg突变的患者外周血单个核细胞中生成诱导多能干细胞系IISHDOi007-A。
Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C; p.Trp798Arg.
作者信息
Cerrada Victoria, García-López Marta, Alvarez-Galeano Sofía, Moreno-Izquierdo Ana, Lucia Alejandro, Rabasa Pérez María, Arenas Joaquín, Gallardo M Esther
机构信息
Grupo de Investigación Traslacional con Células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain.
Servicio de Genética. Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain.
出版信息
Stem Cell Res. 2020 Dec;49:102108. doi: 10.1016/j.scr.2020.102108. Epub 2020 Dec 3.
Peripheral blood mononuclear cells (PBMCs) from a McArdle patient carrying a homozygous mutation in the PYGM gene: c.2392 T > C; p.Trp798Arg were used for the generation of the human iPSC line, IISHDOi007-A. For the delivery of the reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc, a non-integrative methodology that implies the use of Sendai virus has been applied.
来自一名在PYGM基因中携带纯合突变（c.2392 T>C；p.Trp798Arg）的麦克尔迪氏病患者的外周血单个核细胞（PBMC）被用于生成人诱导多能干细胞系IISHDOi007-A。为了递送重编程因子Oct3/4、Sox2、Klf4和c-Myc，采用了一种非整合方法，即使用仙台病毒。
Zotero 插件