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. 2022 Jul:62:102807.
doi: 10.1016/j.scr.2022.102807. Epub 2022 May 5.

Generation of gene-corrected isogenic control cell lines from a DYT1 dystonia patient iPSC line carrying a heterozygous GAG mutation in TOR1A gene

Masuma Akter  1 , Haochen Cui  2 , Yi-Hsien Chen  3 , Baojin Ding  4
Affiliations

Generation of gene-corrected isogenic control cell lines from a DYT1 dystonia patient iPSC line carrying a heterozygous GAG mutation in TOR1A gene

Masuma Akter et al. Stem Cell Res. 2022 Jul.

Abstract

Childhood-onset torsin dystonia (DYT1) is a rare hereditary movement disorder and usually caused by a heterozygous GAG deletion (c.907-909) in the TOR1A gene (ΔE, p.Glu303del). The neuronal functions of torsin proteins and the pathogenesis of ΔE mutation are not clear. Previously, we have generated a hiPSC line from DYT1 patient fibroblast cells. In this study, we genetically corrected GAG deletion and obtained two isogenic control lines. These hiPSC lines contain the wild-type TOR1A sequence, showed the normal stem cell morphology and karyotype, expressed pluripotency markers, and differentiated into three germ layers, providing a valuable resource in DYT1 research.

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Figures

Fig. 1.
Fig. 1.
Characterization of DYT1 correction iPSC lines.
See this image and copyright information in PMC

References

    1. Akter M, Cui H, Chen YH, Ding B (2021) Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line. Stem Cell Res 56, 102536. - PMC - PubMed
    1. Akter M, Cui H, Sepehrimanesh M, Hosain MA, Ding B (2022) Generation of highly pure motor neurons from human induced pluripotent stem cells. STAR Protoc 3, 101223. - PMC - PubMed
    1. Ding B, Tang Y, Ma S, Akter M, Liu M-L, Zang T, Zhang C-L, 2021. Disease Modeling with Human Neurons Reveals LMNB1 Dysregulation Underlying DYT1 Dystonia. J. Neurosci 41 (9), 2024–2038. - PMC - PubMed
    1. Goodchild RE, Kim CE, Dauer WT, 2005. Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron 48 (6), 923–932. - PubMed
    1. Wu J, Ren J, Luo H, Zuo X, Tang Y (2021) Generation of patient-specific induced pluripotent stem cell line (CSUi002-A) from a patient with isolated dystonia carrying TOR1A mutation. Stem Cell Res 53, 102277. - PubMed

Publication types

Supplementary concepts