Journal
STEM CELL RESEARCH
Volume 56, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2021.102536
Keywords
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Funding
- National Institute of Neurological Diseases andStroke [NIH/NINDS NS112910]
- Department of Defense (DoD) Peer Reviewed Medical Research Program (PRMRP) Discovery Award [W81XWH2010186]
- U.S. Department of Defense (DOD) [W81XWH2010186] Funding Source: U.S. Department of Defense (DOD)
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This study successfully generated human induced pluripotent stem cell lines with TOR1A gene GAG deletions through genetic modification, providing a valuable resource in determining the pathogenesis of DYT1 dystonia.
A typical DYT1 dystonia is caused by a heterozygous GAG deletion (c.907-909) in the TOR1A gene (Delta E, 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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