Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation.

Autor:	Dębczyński M; II Department of Lung Diseases and Tuberculosis, Medical University of Bialystok, Bialystok, Poland., Mojsak D; II Department of Lung Diseases and Tuberculosis, Medical University of Bialystok, Bialystok, Poland., Tamburro S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy., Baldassari S; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Musante I; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Casciaro R; Cystic Fibrosis Centre, IRCCS Istituto Giannina Gaslini, Genova, Italy., Ciciriello F; Cystic Fibrosis Unit, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, IRCCS-Rome, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Scudieri P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy. Electronic address: paolo.scudieri@unige.it., Gorrieri G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2023 Oct; Vol. 72, pp. 103232. Date of Electronic Publication: 2023 Oct 18.
DOI:	10.1016/j.scr.2023.103232
Abstrakt:	Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is a chloride channel defective in cystic fibrosis (CF). Several CFTR mutations are causative of CF, among which G542X is a nonsense mutation introducing a premature stop codon which prevents CFTR protein synthesis. We generated a new iPSC line from nasal cells carrying G542X homozygous mutation for CFTR: IGGi002A. This cell line has normal female karyotype, express pluripotency markers and could differentiate into three germ layers in vitro. This iPSC line may be used for disease modeling (cell differentiation and organoid formation) and development of personalized treatments by genome editing or pharmacological screening. Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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