Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Ca(v)1.3-encoding CACNA1D gene

Fecha de publicación: 01/05/2022 Fecha Ahead of Print: 09/04/2022

Autores de IIS La Fe

Maria Carmen De Mingo Alemany

Autor

Participantes ajenos a IIS La Fe

Tisch, Marcel
Suarez-Cubero, Marta
Fauth, Christine
Defrancesco, Michaela
Zschocke, Johannes
Gunther, Katharina
Edenhofer, Frank

Abstract

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.

Datos de la publicación

ISSN/ISSNe:: 1873-5061, 1876-7753
Tipo:: Article
Páginas:: 102784-102784
DOI:: 10.1016/j.scr.2022.102784
Factor de Impacto:: 0,482 SCImago ℠
Cuartil:: Q3 SCImago ℠

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Filiaciones

Tisch, Marcel:: 1Department of Genomics, Stem Cell Biology and Regenerative Medicine, Center for Molecular Biosciences, University of Innsbruck, Innsbruck, Austria.
De Mingo Alemany, Maria Carmen:: 2Pediatric Endocrinology Unit, Hospital Universitario la Fe, Valencia, Spain
Suarez-Cubero, Marta:: 1Department of Genomics, Stem Cell Biology and Regenerative Medicine, Center for Molecular Biosciences, University of Innsbruck, Innsbruck, Austria.
Fauth, Christine:: 3Institute for Human Genetics, Medical University of Innsbruck, Innsbruck, Austria
Defrancesco, Michaela:: 4University Hospital of Psychiatry I, Innsbruck, Austria
Zschocke, Johannes:: 3Institute for Human Genetics, Medical University of Innsbruck, Innsbruck, Austria
Gunther, Katharina:: 1Department of Genomics, Stem Cell Biology and Regenerative Medicine, Center for Molecular Biosciences, University of Innsbruck, Innsbruck, Austria.
Edenhofer, Frank:: 5Department of Genomics, Stem Cell Biology and Regenerative Medicine, Center for Molecular Biosciences, University of Innsbruck, Innsbruck, Austria.