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

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 ge...

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Detalles Bibliográficos
Autores principales: Akter, Masuma, Cui, Haochen, Chen, Yi-Hsien, Ding, Baojin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8561712/
https://www.ncbi.nlm.nih.gov/pubmed/34536661
http://dx.doi.org/10.1016/j.scr.2021.102536
Descripción
Sumario: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 morphology and karyotype, expressed the same pluripotency markers as their parental line, and had the capacity to differentiate into three germ layers, providing a valuable resource in determining the pathogenesis of human DYT1 dystonia.

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