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 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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Akter M, Cui H, Chen YH, Ding B
Journal Stem cell research
Publication Date 2021 Oct;56:102536
PubMed 34536661
PubMed Central PMC8561712
DOI 10.1016/j.scr.2021.102536

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