Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C

Peripheral blood mononuclear cells (PBMCs) from a McArdle patient carrying a homozygous mutation in the PYGM gene: c.2392 T > C; p.Trp798Arg were used for the generation of the human iPSC line, IISHDOi007-A. For the delivery of the reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc, a non-integr...

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Detalles Bibliográficos
Autores: Cerrada, Victoria, García López, Marta, Álvarez Galeano, Sofía, Moreno Izquierdo, Ana, Lucía Mulas, Alejandro, Rabasa Pérez, María, Arenas, Joaquín, Gallardo, María Esther
Tipo de recurso: artículo
Fecha de publicación:2020
País:España
Institución:Universidad Europea (UEM)
Repositorio:ABACUS. Repositorio de Producción Científica
Idioma:inglés
OAI Identifier:oai:abacus.universidadeuropea.com:11268/9665
Acceso en línea:http://hdl.handle.net/11268/9665
Access Level:acceso abierto
Palabra clave:Enfermedades raras
Terapéutica
Metabolismo
Enfermedad
Tratamiento médico
Descripción
Sumario:Peripheral blood mononuclear cells (PBMCs) from a McArdle patient carrying a homozygous mutation in the PYGM gene: c.2392 T > C; p.Trp798Arg were used for the generation of the human iPSC line, IISHDOi007-A. For the delivery of the reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc, a non-integrative methodology that implies the use of Sendai virus has been applied.