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Updated: Jan 13, 2026

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Reprogramación simultánea y corrección génica para generar seis líneas de iPSC y controles isogénicos de individuos

Kiymet Bozaoglu¹, Sarah Massie², Friederike Elise Irion²

¹Murdoch Children's Research Institute, Parkville Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.

Stem cell research

|January 7, 2026

Abstract:

Neurofibromatosis type 1 (NF1) is a neurodevelopmental disorder that affects ∼ 1: 2700 individuals (Lee et al., 2023) however the underlying pathogenic mechanisms are poorly understood. In this study, we performed simultaneous reprogramming and CRISPR-Cas9 genome editing to generate pluripotent stem cell (iPSCs) lines and their respective isogenic controls from six individuals with different pathogenic NF1 variants. All iPSC lines had a normal karyotype, were pluripotent and able to differentiate into the three embryonic germ layers. These iPSC lines are valuable pre-clinical models to investigate the pathomechanisms of NF1 and can be used for future screening to identify new therapeutic treatments for NF1.

Palabras clave:

Neurofibromatosis tipo 1 células madre pluripotentes inducidas modelos de enfermedad corrección génica edición genómica CRISPR-Cas9 modelos preclínicos cribado terapéutico

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