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...
| Autores: | , , , , , , , |
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| 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 |
| 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. |
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