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Article

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 - 1 Jan 2017

Martí Salvador, León Marian, Orellana Carmen, Prieto Javier, Ponsoda Xavier, López-García Carlos, Vílchez Juan Jesús, Sevilla Teresa, Torres Josema

Abstract excerpt

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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Source

Identifiers

PMID: 28395795
DOI: 10.1016/j.scr.2016.11.017

Genes

GDAP1
KLF4
MPZ
MYC
SOX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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