Generation of human induced pluripotent stem cell lines derived from two glucose transporter 1 deficiency syndrome patients
Glucose transporter 1 deficiency syndrome (GLUT1DS), caused by impaired glucose transport at the blood-brain barriers, leads to various central nervous system dysfunctions. A comprehensive understanding of the underlying disease pathogenesis is still lacking. In this study, we have generated GLUT1DS-specific human induced pluripotent stem cells (hiPSCs) derived from two patients. These established GLUT1DS-specific hiPSC lines showed self-renewal and pluripotency and carried heterozygous frameshift or missense mutations in the responsible SLC2A1 gene. These novel cell resources provide new avenues for understanding disease mechanisms and developing new therapies for GLUT1DS.
Authors
- Mami Matsuo‐Takasaki
- Satoru Takahashi (ORCID: https://orcid.org/0000-0002-4707-4010)
- Kiyoshi Ohnuma (ORCID: https://orcid.org/0000-0002-2272-3643)
- Tomoya Shimizu
- Hidenori Ito (ORCID: https://orcid.org/0000-0002-6527-477X)
- Hiroto Tsuboi (ORCID: https://orcid.org/0000-0001-9067-0961)
- Yohei Hayashi (ORCID: https://orcid.org/0000-0001-5490-7052)
- Michiya Noguchi
- Yukio Nakamura (ORCID: https://orcid.org/0000-0001-6834-4123)
- Rui Li (ORCID: https://orcid.org/0000-0003-0853-1837)
- Yun-Hsuan Chang
- Yutaka Arai
- Daigo Takagi
Institutions
- Asahikawa Medical College Hospital (JP)
- University of Tsukuba (JP)
- Asahikawa Medical University (JP)
- RIKEN BioResource Research Center (JP)
- Nagaoka University of Technology (JP)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2024-10-18
- DOI
- https://doi.org/10.1016/j.scr.2024.103584
- Citations
- 3
- Primary Topic
- Diet and metabolism studies
- Type
- article
- Field-Weighted Citation Impact
- 0.98
Funders
- Japan Agency for Medical Research and Development