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...

Descripción completa

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
_version_ 1784593139298729984
author Akter, Masuma
Cui, Haochen
Chen, Yi-Hsien
Ding, Baojin
author_facet Akter, Masuma
Cui, Haochen
Chen, Yi-Hsien
Ding, Baojin
author_sort Akter, Masuma
collection PubMed
description 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.
format Online
Article
Text
id pubmed-8561712
institution National Center for Biotechnology Information
language English
publishDate 2021
record_format MEDLINE/PubMed
spelling pubmed-85617122021-11-02 Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line Akter, Masuma Cui, Haochen Chen, Yi-Hsien Ding, Baojin Stem Cell Res Article 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. 2021-09-11 2021-10 /pmc/articles/PMC8561712/ /pubmed/34536661 http://dx.doi.org/10.1016/j.scr.2021.102536 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Akter, Masuma
Cui, Haochen
Chen, Yi-Hsien
Ding, Baojin
Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line
title Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line
title_full Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line
title_fullStr Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line
title_full_unstemmed Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line
title_short Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line
title_sort generation of two induced pluripotent stem cell lines with heterozygous and homozygous gag deletion in tor1a gene from a healthy hipsc line
topic Article
url 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
work_keys_str_mv AT aktermasuma generationoftwoinducedpluripotentstemcelllineswithheterozygousandhomozygousgagdeletionintor1agenefromahealthyhipscline
AT cuihaochen generationoftwoinducedpluripotentstemcelllineswithheterozygousandhomozygousgagdeletionintor1agenefromahealthyhipscline
AT chenyihsien generationoftwoinducedpluripotentstemcelllineswithheterozygousandhomozygousgagdeletionintor1agenefromahealthyhipscline
AT dingbaojin generationoftwoinducedpluripotentstemcelllineswithheterozygousandhomozygousgagdeletionintor1agenefromahealthyhipscline

Ejemplares similares