Academic Journal
CRISPR/Cpf1-mediated knockout of FLG in human induced pluripotent stem cells generates a model for studying epidermal barrier dysfunction.
| Τίτλος: | CRISPR/Cpf1-mediated knockout of FLG in human induced pluripotent stem cells generates a model for studying epidermal barrier dysfunction. |
|---|---|
| Συγγραφείς: | Ntzani ER; Environmental Adaptation and Cellular Resilience Laboratory, IUF - Leibniz Research Institute for Environmental Medicine, Düsseldorf, Germany; AHR Signaling & Environmentally-induced Skin Damage Laboratory, IUF - Leibniz Research Institute for Environmental Medicine, Düsseldorf, Germany., Ramachandran H; Genome Engineering and Model Development Laboratory, IUF - Leibniz Research Institute for Environmental Medicine, Düsseldorf, Germany., Papadopoulou M; Environmental Adaptation and Cellular Resilience Laboratory, IUF - Leibniz Research Institute for Environmental Medicine, Düsseldorf, Germany., Binder S; Environmental Adaptation and Cellular Resilience Laboratory, IUF - Leibniz Research Institute for Environmental Medicine, Düsseldorf, Germany., Hildebrandt B; Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany., Haarmann-Stemmann T; AHR Signaling & Environmentally-induced Skin Damage Laboratory, IUF - Leibniz Research Institute for Environmental Medicine, Düsseldorf, Germany. Electronic address: thomas.haarmann-stemmann@iuf-duesseldorf.de., Rossi A; Environmental Adaptation and Cellular Resilience Laboratory, IUF - Leibniz Research Institute for Environmental Medicine, Düsseldorf, Germany; Genome Engineering and Model Development Laboratory, IUF - Leibniz Research Institute for Environmental Medicine, Düsseldorf, Germany. Electronic address: andrea.rossi@IUF-duesseldorf.de. |
| Πηγή: | Stem cell research [Stem Cell Res] 2026 Sep; Vol. 95, pp. 104056. Date of Electronic Publication: 2026 Jul 06. |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Kidlington, Oxford : Elsevier |
| Ιατρικοί όροι (MeSH): | Induced Pluripotent Stem Cells*/metabolism , Induced Pluripotent Stem Cells*/cytology , CRISPR-Cas Systems*/genetics , Epidermis*/metabolism , Epidermis*/pathology , Intermediate Filament Proteins*/genetics , Intermediate Filament Proteins*/metabolism , Gene Knockout Techniques*, Humans ; Filaggrin Proteins ; Cell Differentiation ; Cell Line |
| Περίληψη: | Loss of filaggrin (FLG) function impairs skin barrier formation and contributes to common inflammatory skin diseases. In this study, we established a FLG knockout human induced pluripotent stem cell (iPSC) line based on KOLF2.1 J using CRISPR/Cas12a (Cpf1)-mediated genome editing. A guide RNA targeting exon 2 introduced a homozygous mutation, which was confirmed by sequencing. The edited cells maintained typical pluripotent stem cell morphology, expressed key undifferentiated markers, and retained the ability to differentiate into all three germ layers. Karyotype and copy number variation (CNV) analyses confirmed genomic stability and parental origin; the cells were free of mycoplasma. This cell line enables studies of FLG-associated skin biology and pathology. (Copyright © 2026 The Author(s). Published by Elsevier B.V. All rights reserved.) |
| Competing Interests: | Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Andrea Rossi reports financial support was provided by IUF Leibniz Research Institute for Environmental Medicine. ANDREA ROSSI has patent hiPSCore pending to Andrea Rossi. N.A. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. |
| Substance Nomenclature: | 0 (Filaggrin Proteins) 0 (FLG protein, human) 0 (Intermediate Filament Proteins) |
| Entry Date(s): | Date Created: 20260714 Date Completed: 20260910 Latest Revision: 20260910 |
| Update Code: | 20260911 |
| DOI: | 10.1016/j.scr.2026.104056 |
| PMID: | 42447733 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1876-7753 |
|---|---|
| DOI: | 10.1016/j.scr.2026.104056 |