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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• 作者：Salvador Martí ; ^a ; ¹ ; Marian Leó ; n^b ; ¹ ; Carmen Orellana^c ; Javier Prieto^b ; Xavier Ponsoda^b ; Carlos Ló ; pez-Garcí ; a^b ; Juan Jesú ; s Ví ; lchez^d ; ^e ; Teresa Sevilla^d ; ^e ; Josema Torres^b ; ^{josema.torres@uv.es}
• 刊名：Stem Cell Research
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：18
• 期：Complete
• 页码：1-4
• 全文大小：597 K
• 卷排序：18

文摘

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.