Generation of induced pluripotent stem cell line (RCMGi008-A) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/CFTRdele2.3 mutations in CFTR gene

Ekaterina Kondrateva; Irina Panchuk; Anna Demchenko; Olga Grigorieva; Diana Zheglo; Ekaterina Voronina; Anastasija Erofeeva; Vyacheslav Tabakov; Maria Orlova; Alexander Lavrov; Svetlana Smirnikhina; Sergey Kutsev

Stem Cell Research (Aug 2022)

Generation of induced pluripotent stem cell line (RCMGi008-A) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/CFTRdele2.3 mutations in CFTR gene

Ekaterina Kondrateva,
Irina Panchuk,
Anna Demchenko,
Olga Grigorieva,
Diana Zheglo,
Ekaterina Voronina,
Anastasija Erofeeva,
Vyacheslav Tabakov,
Maria Orlova,
Alexander Lavrov,
Svetlana Smirnikhina,
Sergey Kutsev

Affiliations

Ekaterina Kondrateva: Corresponding author.; Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Irina Panchuk: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Anna Demchenko: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Olga Grigorieva: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Diana Zheglo: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Ekaterina Voronina: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Anastasija Erofeeva: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Vyacheslav Tabakov: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Maria Orlova: 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
Sergey Kutsev: Research Centre for Medical Genetics, Moscow 115522, Russian Federation

Journal volume & issue: Vol. 63
p. 102854

Abstract

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Skin fibroblasts obtained from a 20-year-old woman with clinically manifested and genetically proven (F508del/CFTRdele2.3) 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 used for development of a personalized treatment including genome editing, disease modelling, cell differentiation and organoid formation, pharmacological investigations 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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