期刊
STEM CELL RESEARCH
卷 52, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.scr.2021.102229
关键词
-
资金
- Ministry of Science and Technology (MOST) [MOST 106-2319-B-001-003]
- Ministry of Science and Technology (MOST) of Taiwan Government [MOST 107-2314-B-715-004-MY3]
- MacKay Medical College [MMCRD1081E03, MMC-RD-109B19]
- MacKay memorial hospital [MMH-MM-10701, MMH-MM-10804, MMH-MM-10901]
The production of ALDH2-pE487K iPSCs will be valuable for investigating the pathogenic mechanisms linking ALDH2 polymorphism to alcohol-related diseases.
The ALDH2 mutation (ALDH2*2) is caused by an amino acid substitution ALDH2 rs671 G>A (pE487K) which reduces ALDH2 enzyme activity. When individuals with the ALDH2 mutation consume alcohol, accumulating acetaldehyde in the blood can cause reddened face, headache, nausea, and palpitations; symptoms referred to as Alcohol Flushing Reaction. We report the production of an induced pluripotent stem cell (iPSC) line, FIRDIi001-A, developed from peripheral blood mononuclear cells of a 39-year-old male subject with the ALDH2*2 mutation. The ALDH2-pE487K iPSCs will be valuable in investigating pathogenic mechanisms involved in the link between the ALDH2 polymorphism and alcohol-related diseases.
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