Generation of induced pluripotent stem cell line (RCMGi001-A) from human skin fibroblasts of a cystic fibrosis patient with p.F508del mutation

Ekaterina Kondrateva; Elmira Adilgereeva; Elena Amelina; Vyacheslav Tabakov; Anna Demchenko; Kirill Ustinov; Matvey Yasinovsky; Ekaterina Voronina; Alexander Lavrov; Svetlana Smirnikhina

doi:10.1016/j.scr.2020.101933

Generation of induced pluripotent stem cell line (RCMGi001-A) from human skin fibroblasts of a cystic fibrosis patient with p.F508del mutation

Stem Cell Res. 2020 Oct:48:101933. doi: 10.1016/j.scr.2020.101933. Epub 2020 Aug 2.

Affiliations

¹ Research Centre for Medical Genetics, Moscow 115522, Russian Federation. Electronic address: ekaterina.kondratyeva@gmail.com.
² Research Centre for Medical Genetics, Moscow 115522, Russian Federation.
³ The Research Institute of Pulmonology, Moscow 115682, Russian Federation.

PMID: 32777768
DOI: 10.1016/j.scr.2020.101933

Abstract

Skin fibroblasts obtained from a 27-year-old man with clinically manifested and genetically proven (F508del/F508del) cystic fibrosis were successfully transformed into induced pluripotent stem cells (iPSCs) by using Sendai virus-based reprogramming vectors including the four Yamanaka factors, OCT3/4, SOX2, KLF4, and c-MYC. The iPSCs showed a normal karyotype, expressed pluripotency markers and exhibited the potential to differentiate into three germ layers in spontaneous differentiation assay. This iPSC line may be subsequently used for development of a personalized etiotropic treatment including genome editing, and for disease modelling and drug screening.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Cell Differentiation
Cellular Reprogramming / genetics
Cystic Fibrosis* / genetics
Fibroblasts
Humans
Induced Pluripotent Stem Cells*
Kruppel-Like Factor 4
Male
Mutation
Sendai virus