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

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.

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Publication Details

Journal
Stem Cell Research
Published
2024-09-10
DOI
https://doi.org/10.1016/j.scr.2024.103551
Primary Topic
CRISPR and Genetic Engineering
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Spyridon T. Pachis, Veronika Ramovš, Karine Raymond, Cristina Has et al.
Stem Cell Research
CRISPR and Genetic Engineering
article

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

Spyridon T. Pachis, Veronika Ramovš, Karine Raymond, Cristina Has, Christian Freund
article en

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.

Stem Cell ResearchVol. 81
Inserm (FR), University of Freiburg (DE), Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR), Leiden University Medical Center (NL), Novo Nordisk Foundation (DK), University Medical Center Freiburg (DE), CEA Grenoble (FR), Institut de Recherche Interdisciplinaire de Grenoble (FR), Laboratoire Biosciences et bioingénierie pour la Santé, Université Grenoble Alpes (FR)
National Institute of Advanced Industrial Science and Technology, Institut National de la Santé et de la Recherche Médicale, Novo Nordisk, Leids Universitair Medisch Centrum, Novo Nordisk Fonden, DEBRA Austria
Openalex Percentile: Top 86%
CRISPR and Genetic Engineering
DOIOpen Access PDFOpenAlex
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