Generation of two induced pluripotent stem cell lines (RCMGi004-A and -B) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/W1282X mutations in CFTR gene.


Journal

Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957

Informations de publication

Date de publication:
04 2021
Historique:
received: 22 09 2020
revised: 22 01 2021
accepted: 04 02 2021
pubmed: 20 2 2021
medline: 1 7 2021
entrez: 19 2 2021
Statut: ppublish

Résumé

Skin fibroblasts obtained from a 28-year-old man with clinically manifested and genetically proven (F508del/W1282X) cystic fibrosis were successfully transformed into induced pluripotent stem cells (iPSCs) by using non-viral, non-integrating, self-replicating RNA reprogramming vectorthat contains five reprogramming factors: OCT4, KLF4, SOX2, GLIS1, and c-MYC as well as a puromycin-resistance gene. Two iPSC lines showed a normal karyotype, expressed pluripotency markers and exhibited the potential to differentiate into three germ layers in spontaneous differentiation assay. These iPSC lines may be subsequently used for development of a personalized etiotropic treatment,disease modelling, cell differentiation and organoid formation, pharmacological investigations and drug screening.

Identifiants

pubmed: 33607467
pii: S1873-5061(21)00078-7
doi: 10.1016/j.scr.2021.102232
pii:
doi:

Substances chimiques

CFTR protein, human 0
KLF4 protein, human 0
Kruppel-Like Factor 4 0
Cystic Fibrosis Transmembrane Conductance Regulator 126880-72-6

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

102232

Informations de copyright

Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Auteurs

Ekaterina Kondrateva (E)

Research Centre for Medical Genetics, Moscow 115522, Russian Federation. Electronic address: ekaterina.kondratyeva@gmail.com.

Anna Demchenko (A)

Research Centre for Medical Genetics, Moscow 115522, Russian Federation.

Yana Slesarenko (Y)

Research Centre for Medical Genetics, Moscow 115522, Russian Federation.

Victoria Pozhitnova (V)

Research Centre for Medical Genetics, Moscow 115522, Russian Federation.

Matvey Yasinovsky (M)

Research Centre for Medical Genetics, Moscow 115522, Russian Federation.

Elena Amelina (E)

The Research Institute of Pulmonology, Moscow 115682, Russian Federation.

Vyacheslav Tabakov (V)

Research Centre for Medical Genetics, Moscow 115522, Russian Federation.

Ekaterina Voronina (E)

Research Centre for Medical Genetics, Moscow 115522, Russian Federation.

Alexander Lavrov (A)

Research Centre for Medical Genetics, Moscow 115522, Russian Federation.

Svetlana Smirnikhina (S)

Research Centre for Medical Genetics, Moscow 115522, Russian Federation.

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Classifications MeSH