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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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Valencià Castellano

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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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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

Aquest document és un/a article, creat/da en: 2017

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.

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