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Article

Establishment of DYT5 patient-specific induced pluripotent stem cells with a GCH1 mutation.

Stem cell research - 1 Oct 2017

Murakami Nagahisa, Ishikawa Taizo, Kondo Takayuki, Imamura Keiko, Tsukita Kayoko, Enami Takako, Funayama Misato, Shibukawa Ran, Matsumoto Shinichi, Izumi Yuishin, Ohta Etsuro, Obata Fumiya, Kaji Ryuji, Inoue Haruhisa

Abstract excerpt

Peripheral blood mononuclear cells (PBMCs) were collected from a clinically diagnosed 20-year-old dystonia patient with a GCH1 mutation (DYT5). Episomal vectors were used to introduce reprogramming factors (OCT3/4, SOX2, KLF4, L-MYC, LIN28, and p53 carboxy-terminal dominant-negative fragment) to the PBMCs. The generated iPSCs expressed pluripotency markers, and were capable of differentiating into derivates of...

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Source

Identifiers

PMID: 29034893
DOI: 10.1016/j.scr.2017.07.029

Genes

GCH1
KLF4
MYC
SOX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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