从一名缺乏功能性GDAP1基因的2K型夏科-马里-图斯病患者中获得疾病特异性诱导多能干细胞系。
Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene.
作者信息
Martí Salvador, León Marian, Orellana Carmen, Prieto Javier, Ponsoda Xavier, López-García Carlos, Vílchez Juan Jesús, Sevilla Teresa, Torres Josema
机构信息
Centro 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.
Departamento de Biología Celular, Biología Funcional y Antropología Física, Universidad de Valencia, 46100 Burjassot, Spain.
出版信息
Stem Cell Res. 2017 Jan;18:1-4. doi: 10.1016/j.scr.2016.11.017. Epub 2016 Dec 2.
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.
人类CMT2-FiPS4F1细胞系由一名患有夏科-马里-图斯病的患者的成纤维细胞产生，该患者的GDAP1基因杂合存在以下突变：p.Q163X/p.T288NfsX3。该患者的PM22、MPZ或GJB基因未出现突变。人类重编程因子OCT3/4、KLF4、SOX2和C-MYC通过一种非整合方法导入，该方法涉及使用仙台病毒。
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