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...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2024-04-01
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Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124000126 |