Generation and genetic repair of two human induced pluripotent stem cell lines from patients with Epidermolysis Bullosa simplex associated with a heterozygous mutation in the translation initiation codon of KLHL24
Year: 2024
Type: article
Abstract: Fibroblasts from two patients carrying a distinct heterozygous mutation in the KLHL24 gene (c.1 A>G and c.2T>C) were reprogrammed to obtain hiPSC lines. Non-integrating Sendai virus and CRISPR-Cas9 editing were respectively used to deliver the reprogramming factors and repair the mutation in the patient-hiPSCs to obtain isogenic control pairs. No off-target nuclease activity was detected with the top-predicted sites. Patient and isogenic hiPSCs displayed typical morphology, expressed markers of the undifferentiated state, were able to differentiate into the three germ layers and had normal karyotypes. These isogenic pairs will expand the panel of hiPSC lines to model KLHL24-associated conditions.
Source: Stem Cell Research
Institutions: Leiden University, Leiden University Medical Center, Novo Nordisk Foundation, Novo Nordisk Foundation Center for Stem Cell Medicine, University of Freiburg, University Medical Center Freiburg, Inserm, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, CEA Grenoble, Institut de Recherche Interdisciplinaire de Grenoble, Laboratoire Biosciences et bioingénierie pour la Santé, Université Grenoble Alpes
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,320
Awards: G4049518193, G5546203492
OpenAlex ID: W4402404806