MODY8 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 therapy.

Generation of β cells from iPSC of a MODY8 patient with a novel mutation in the carboxyl ester lipase (CEL) gene

Martino, Gianvito;Ferrari, Maurizio;Piemonti, Lorenzo
Ultimo
2021-01-01

Abstract

MODY8 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 therapy.
2021
MODY (monogenic diabetes of the young)
beta cells
diabetes
induced pluripotent stem cells (iPSC)
stem cells
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11768/109771
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