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Article

Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line.

Stem cell research - 1 Oct 2021

Akter Masuma, Cui Haochen, Chen Yi-Hsien, Ding Baojin

Abstract excerpt

A typical DYT1 dystonia is caused by a heterozygous GAG deletion (c.907-909) in the TOR1A gene (ΔE, p.Glu303del) and the pathogenesis is not clear. In this study, human induced pluripotent stem cell (hiPSC) lines carrying the heterozygous or homozygous GAG deletion in TOR1A gene were generated by genetic modification of a healthy hiPSC line (WTC11, UCSFi001-A). These hiPSC lines showed the normal stem cell...

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Identifiers

PMID: 34536661
DOI: 10.1016/j.scr.2021.102536
PMCID: PMC8561712

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