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

Stem Cell Research (Oct 2020)

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

Affiliations

Ekaterina Kondrateva: Research Centre for Medical Genetics, Moscow 115522, Russian Federation; Corresponding author.
Elmira Adilgereeva: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Elena Amelina: The Research Institute of Pulmonology, Moscow 115682, Russian Federation
Vyacheslav Tabakov: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Anna Demchenko: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Kirill Ustinov: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Matvey Yasinovsky: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Ekaterina Voronina: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Alexander Lavrov: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Svetlana Smirnikhina: Research Centre for Medical Genetics, Moscow 115522, Russian Federation

Journal volume & issue: Vol. 48
p. 101933

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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