Journal
STEM CELL RESEARCH
Volume 57, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2021.102582
Keywords
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Funding
- DEBRA Austria
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Fibroblasts from patients with a specific mutation were used to generate hiPSCs, which were then genetically corrected using CRISPR-Cas9 editing. The resulting cells showed typical morphology, expressed pluripotency-associated markers, had the ability for in vitro differentiation, and will facilitate modeling of KLHL24-associated conditions.
Fibroblasts from two patients carrying a heterozygous mutation in the translation initiation codon (c.2 T > G) of the kelch-like protein 24 (KLHL24) gene were used to generate human induced pluripotent stem cells (hiPSCs), using non-integrating Sendai virus to deliver reprogramming factors. CRISPR-Cas9 editing was used for genetic correction of the mutation in the patient-hiPSCs. The top-predicted off-target sites were not altered. Patient and isogenic hiPSCs showed typical morphology, expressed pluripotency-associated markers, had the capacity for in vitro differentiation into the three germ layers and displayed a normal karyotype. These isogenic pairs will enable in vitro modelling of KLHL24-associated heart and skin conditions.
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