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Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI
oleh: Ekaterina Kondrateva, Olga Grigorieva, Irina Panchuk, Igor Bychkov, Ekaterina Zakharova, Vyacheslav Tabakov, Victoria Pozhitnova, Ekaterina Voronina, Olga Shchagina, Alexander Lavrov, Svetlana Smirnikhina, Sergey Kutsev
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2023-12-01 |
Deskripsi
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.