Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI

被引：0
|
作者：
Kondrateva, Ekaterina [1 ]
Grigorieva, Olga [1 ]
Panchuk, Irina [1 ]
Bychkov, Igor [1 ]
Zakharova, Ekaterina [1 ]
Tabakov, Vyacheslav [1 ]
Pozhitnova, Victoria [1 ]
Voronina, Ekaterina [1 ]
Shchagina, Olga [1 ]
Lavrov, Alexander [1 ]
Smirnikhina, Svetlana [1 ]
Kutsev, Sergey [1 ]
机构：
[1] Res Ctr Med Genet, Moscow 115522, Russia
来源：
STEM CELL RESEARCH | 2023年 / 73卷
关键词：
D O I：
10.1016/j.scr.2023.103259
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Skin fibroblasts obtained from a 5-year-old girl with genetically proven (two heterozygous mutations in ARSB gene) and clinically manifested mucopolysaccharidosis type VI were successfully transformed into induced pluripotent stem cells by using Sendai virus-based reprogramming vectors including the four Yamanaka factors namely SOX2, OCT3/4, KLF4, and c-MYC. These iPSCs expressed pluripotency markers, had a normal karyotype and the potential to differentiate into three germ layers in spontaneous differentiation assay. The line may be used for cell differentiation and pharmacological investigations, and also may provide a model for development of a personalized treatment including drug screening and genome editing.
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