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Genome editing in human pluripotent stem cells: a systematic approach unrevealing pancreas development and disease

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Although mouse models have represented a major tool for understanding and predicting molecular mechanisms responsible for several human genetic diseases, still species-specific differences between mouse and humans in their biochemical and physiological characteristics represent a major hurdle when translating promising findings into the human setting (1). For instance, in several types of maturity onset diabetes of the young (MODY; autosomal dominant), mice with heterozygous mutations do not develop diabetes (2). In this regard, the derivation of human embryonic stem cells (hESCs) in 1998 represented an unprecedented opportunity for human disease modelling, and a promising source for cell replacement therapies (3). Later on, the possibility to generate patient-derived induced pluripotent stem cells (iPSCs) has opened new venues for the potential translation of stem-cell related studies into the clinic (4).

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GARRETA, Elena, MARCO, Andrés, IZPISÚA BELMONTE, Juan carlos, MONTSERRAT, Núria. Genome editing in human pluripotent stem cells: a systematic approach unrevealing pancreas development and disease. _Stem Cell Investigation 2016_. vol. 4. Vol. 11, núm. 1-4. [consulta: 26 de febrer de 2026]. [Disponible a: https://hdl.handle.net/2445/112251]

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