Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Province Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China.
Department of Medical Laboratory, Shandong Medical College, Jinan, Shandong 250002, China.
Stem Cell Res. 2024 Apr;76:103314. doi: 10.1016/j.scr.2024.103314. Epub 2024 Jan 22.
Isovaleric acidemia (IVA; OMIM ID#243500) is an inborn error of leucine metabolism caused by a deficiency of isovaleryl-CoA dehydrogenase (IVD). In this study, we generated a human induced pluripotent stem cell line (hiPSCs) SDQLCHi057-A from a 2-year-7-month old boy with IVA carrying two heterozygous missense mutations c.215A > G (p.N72S) and c.883A > G (p.M295V) of the IVD gene. Patient-specific hiPSCs provide a proper model for further understanding this rare disease.
异戊酸血症（IVA；OMIM ID#243500）是一种由于异戊酰基辅酶 A 脱氢酶（IVD）缺乏引起的亮氨酸代谢缺陷。在本研究中，我们从一名患有 IVA 的 2 岁 7 个月大的男孩中生成了一个人诱导多能干细胞系（hiPSCs）SDQLCHi057-A，该男孩携带两个杂合错义突变 c.215A>G（p.N72S）和 c.883A>G（p.M295V）的 IVD 基因。患者特异性 hiPSCs 为进一步了解这种罕见疾病提供了合适的模型。
