An induced pluripotent stem cell line derived from a patient with neonatal diabetes and Fanconi-Bickel syndrome caused by a homozygous mutation in the SLC2A2 gene.
Stem Cell Res
; 54: 102433, 2021 07.
Article
en En
| MEDLINE
| ID: mdl-34171785
ABSTRACT
Recessive mutations in the glucose transporter gene SLC2A2 (GLUT2) lead to permanent neonatal diabetes (PNDM) and Fanconi Bickel Syndrome (FBS). Here, we generated an induced pluripotent stem cell (iPSC) line, QBRIi012-A, from a 24-month-old boy with FBS and PNDM due to homozygous nonsense mutation in the SLC2A2 gene (c.901C > T). The QBRIi012-A was fully characterized using different approaches. The cell line showed normal karyotype and was able to differentiate into the three germ layers in vitro. This iPSC line provides a novel human cell model to understand the pathophysiology of FBS and diabetes associated with SLC2A2 defects.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Diabetes Mellitus
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Síndrome de Fanconi
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Células Madre Pluripotentes Inducidas
Límite:
Child, preschool
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Humans
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Male
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Newborn
Idioma:
En
Revista:
Stem Cell Res
Año:
2021
Tipo del documento:
Article
País de afiliación:
Qatar