Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI
Summary
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. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Kondrateva E, Grigorieva O, Panchuk I, Bychkov I, Zakharova E, Tabakov V, Pozhitnova V, Voronina E, Shchagina O, Lavrov A, Smirnikhina S, Kutsev S |
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| Journal | Stem cell research |
| Publication Date | 2023 Dec;73:103259 |
| PubMed | 38006675 |
| DOI | 10.1016/j.scr.2023.103259 |