Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi002-A) from a patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
oleh: Chen Zhang, Dongdong Wang, Yu Wang, Ping Sun, Dandan Zhao, Xiaoyun Zhao, Yuying Zhao, Fuchen Liu, Jingwen Xu, Chuanzhu Yan
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2023-06-01 |
Deskripsi
Mutations in the ETFDH gene, encoding electron transfer flavoprotein dehydrogenase, have been identified to cause riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD) (Wen et al., 2010). We performed the generation and characterization of human induced pluripotent stem cell (iPSC) line from skin fibroblasts of a patient with RR-MADD carrying two heterozygous ETFDH mutations (p.D130V and p.A84V). Their pluripotency was verified by the expression of several pluripotency markers on RNA and protein levels and the capability to differentiate into all three germ layers.