雷特综合征
诱导多能干细胞
重编程
KLF4公司
SOX2
生物
MECP2
胚芽层
突变
癌症研究
外周血单个核细胞
杂合子丢失
核型
细胞培养
遗传学
细胞生物学
基因
胚胎干细胞
体外
表型
染色体
等位基因
作者
Guo Yu,Jiaqi Li,Wenyi Xie,Huaping Huang,Jin-Jing Li,Wanhui Lin,Ying‐Qian Lu
标识
DOI:10.1016/j.scr.2023.103268
摘要
The human iPS cell line, hiPS-RTT (FJMUi002-A), is derived from peripheral blood mononuclear cells (PBMCs) from a 12-year-old female RTT patient carrying a heterozygous p. R133C (c.397C > T) mutation in the MeCP2 gene. The hiPS-RTT cell line was generated by non-integrative reprogramming vectors encoding OCT3/4, SOX2, KLF4, and c-MYC and was free of genomically integrated reprogramming genes. The hiPS-RTT cell line had a normal karyotype, expressed pluripotency markers, and had capacity to form three germ layers in vitro, which offering a useful resource to study the pathogenesis and treatment strategies of RTT.
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