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

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

doi:10.1016/j.scr.2021.102536

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. 2021 Oct:56:102536. doi: 10.1016/j.scr.2021.102536. Epub 2021 Sep 11.

Authors

Masuma Akter¹, Haochen Cui¹, Yi-Hsien Chen², Baojin Ding³

Affiliations

¹ Department of Biology, University of Louisiana at Lafayette, 410 East Saint Mary Boulevard, Lafayette LA 70503, USA.
² Genome Engineering and iPSC Center (GEiC), Washington University at St Louis, MO 63110, USA.
³ Department of Biology, University of Louisiana at Lafayette, 410 East Saint Mary Boulevard, Lafayette LA 70503, USA. Electronic address: Baojin.Ding@Louisiana.edu.

Abstract

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.

Publication types

Research Support, N.I.H., Extramural
Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

Heterozygote
Homozygote
Humans
Induced Pluripotent Stem Cells*
Molecular Chaperones / genetics
Mutation

Substances

Molecular Chaperones
TOR1A protein, human

Grants and funding

R21 NS112910/NS/NINDS NIH HHS/United States