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Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene

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Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene

dc.contributor.author	Martí Pérez, Salvador
dc.contributor.author	León Rodríguez, Marian
dc.contributor.author	Orellana Alonso, Carmen
dc.contributor.author	Prieto Martínez, Javier
dc.contributor.author	Ponsoda i Martí, Xavier
dc.contributor.author	López García, Carlos
dc.contributor.author	Vílchez Padilla, Juan Jesús
dc.contributor.author	Sevilla Mantecón, Teresa
dc.contributor.author	Torres Ibáñez, José Manuel
dc.date.accessioned	2022-10-21T13:04:09Z
dc.date.available	2022-10-21T13:04:09Z
dc.date.issued	2017
dc.identifier.uri	https://hdl.handle.net/10550/84235
dc.description.abstract	Human CMT2-FiPS4F1 cell line was generated from fibroblasts of a patient with Charcot-Marie-Tooth disease harbouring the following mutations in the GDAP1 gene in heterozygosis: p.Q163X/p.T288NfsX3. This patient did not present mutations in the PM22, MPZ or GJB genes. Human reprogramming factors OCT3/4, KLF4, SOX2 and C-MYC were delivered using a non-integrative methodology that involves the use of Sendai virus.
dc.language.iso	eng
dc.relation.ispartof	Stem Cell Research, 2017, vol. 18, p. 1-4
dc.source	Martí Pérez, Salvador León Rodríguez, Marian Orellana Alonso, Carmen Prieto Martínez, Javier Ponsoda i Martí, Xavier López García, Carlos Vílchez Padilla, Juan Jesús Sevilla Mantecón, Teresa Torres Ibáñez, José Manuel 2017 Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene Stem Cell Research 18 1 4
dc.subject	Cèl·lules
dc.subject	Sistema nerviós Malalties
dc.title	Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene
dc.type	journal article	es_ES
dc.date.updated	2022-10-21T13:04:09Z
dc.identifier.doi	https://doi.org/10.1016/j.scr.2016.11.017
dc.identifier.idgrec	115301
dc.rights.accessRights	open access	es_ES