Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Stem cell research - 1 Oct 2023

Dębczyński Michał, Mojsak Damian, Tamburro Serena, Baldassari Simona, Musante Ilaria, Casciaro Rosaria, Ciciriello Fabiana, Zara Federico, Scudieri Paolo, Gorrieri Giulia

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Codon, Nonsense
Share to Cystic Fibrosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to Induced Pluripotent Stem Cells

Share to Mutation

Source

Identifiers

PMID: 37865062
DOI: 10.1016/j.scr.2023.103232

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation.PMID 37865062Read ↗

CRISPR-Cas9 genome editing in the parental iPSC line PCIi033-A to introduce the homozygous mutation p.F508del (c.1521_1523del) in the CFTR gene.Semantic proximity Read ↗

Derivation of iPSC line (RCMGi002-A) from dermal fibroblasts of a cystic fibrosis female patient with homozygous F508del mutation.Semantic proximity Read ↗

Generation of human induced pluripotent stem cells from cystic fibrosis patient carrying nonsense mutation (p.S308X) in CFTR gene.Semantic proximity Read ↗

Generation of two iPSC lines each carrying a stop codon mutation, c.366T > A (p.Y122X) and c.1657C > T (p.R553X), in the CFTR gene from the parental line PCIi033-A using CRISPR/Cas9.Semantic proximity Read ↗

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.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Generation of two iPSC lines carrying two cystic fibrosis rare intronic mutations c.1585-1G>A and c.1680-886A>G in the CFTR gene of the parental line PCIi033-A using CRISPR/Cas tools.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line (MHHi018-A) from a patient with Cystic Fibrosis carrying p.Asn1303Lys (N1303K) mutation.Semantic proximity Read ↗

Generation of two induced pluripotent stem cell (iPSC) lines from p.F508del Cystic Fibrosis patients.Semantic proximity Read ↗

Efficient generation of functional CFTR-expressing airway epithelial cells from human pluripotent stem cellsSemantic proximity Read ↗

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

Functional Gene Correction for Cystic Fibrosis in Lung Epithelial Cells Generated from Patient iPSCs.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.