Generation of a human induced pluripotent stem cell line (SDQLCHi057-A) from an Isovaleric aciduria patient carrying novel compound heterozygous mutations in the IVD gene

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 heterozygo...

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Bibliographic Details
Main Authors: Ning Liu, Yuan Zhang, Rui Dong, Yuqiang Lv, Ming Gao, Xiaomeng Yang, Yi Liu, Zhongtao Gai
Format: Article
Language:English
Published: Elsevier 2024-04-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506124000126