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Article

Genome modification leads to phenotype reversal in human myotonic dystrophy type 1 induced pluripotent stem cell-derived neural stem cells.

Stem cells (Dayton, Ohio) - 1 Jun 2015

Xia Guangbin, Gao Yuanzheng, Jin Shouguang, Subramony S H, Terada Naohiro, Ranum Laura P W, Swanson Maurice S, Ashizawa Tetsuo

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is caused by expanded CTG repeats in the 3'-untranslated region (3' UTR) of the DMPK gene. Correcting the mutation in DM1 stem cells would be an important step toward autologous stem cell therapy. The objective of this study is to demonstrate in vitro genome editing to prevent production of toxic mutant transcripts and reverse phenotypes in DM1 stem cells. Genome editing was...

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Source

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Identifiers

PMID: 25702800
DOI: 10.1002/stem.1970
PMCID: PMC4441571

Genes

DMPK
MAPT

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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