Article
Generation of β Cells from iPSC of a MODY8 Patient with a Novel Mutation in the Carboxyl Ester Lipase (CEL) Gene.
The Journal of clinical endocrinology and metabolism - 23 Apr 2021
Pellegrini Silvia, Pipitone Giovanni B, Cospito Alessandro, Manenti Fabio, Poggi Gaia, Lombardo Marta T, Nano Rita, Martino Gianvito, Ferrari Maurizio, Carrera Paola, Sordi Valeria, Piemonti Lorenzo
Abstract excerpt
CONTEXT: Maturity-onset diabetes of the young (MODY) 8 is a rare form of monogenic diabetes characterized by a mutation in CEL (carboxyl ester lipase) gene, which leads to exocrine pancreas dysfunction, followed by β cell failure. Induced pluripotent stem cells can differentiate into functional β cells. Thus, β cells from MODY8 patients can be generated in vitro and used for disease modelling and cell replacement...
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