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Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking
Salvador Martí1, Marian León2, Carmen Orellana3
1Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); CIBERER Biobank, Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO-Salud Pública), Valencia, Spain.
Stem Cell Research
|April 12, 2017
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.