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Stem Cell Res ; 61: 102784, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35453044

RESUMO

Congenital hyperinsulinemic hypoglycemia (HH) is the most frequent cause of persistent and recurrent hypoglycemia. Peripheral mononuclear blood cells (PBMCs) from a patient diagnosed with HH, alongside autism-spectrum-disorder (ASD), carrying a heterozygous c.812 T>A (L271H) mutation in the voltage-gated calcium channel subunit Cav1.3-encoding gene CACNA1D, were reprogrammed into induced pluripotent stem cells (iPSC). The CACNA1D L271H iPSC (IBKMOLi002-A) exhibit a normal karyotype, high expression of pluripotency-associated markers and the capacity to differentiate into cells of all three germ layers. We provide a novel patient-specific iPSC line, allowing to study HH, ASD, the associated neurodevelopmental disorder as well as CACNA1D-associated channelopathies in general.


Assuntos
Hipoglicemia , Células-Tronco Pluripotentes Induzidas , Células Sanguíneas , Canais de Cálcio/metabolismo , Canais de Cálcio Tipo L/genética , Canais de Cálcio Tipo L/metabolismo , Humanos , Hipoglicemia/metabolismo , Células-Tronco Pluripotentes Induzidas/metabolismo , Mutação/genética
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