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
- Resource Type
- article
- Authors
- Ning Liu; Yuan Zhang; Rui Dong; Yuqiang Lv; Ming Gao; Xiaomeng Yang; Yi Liu; Zhongtao Gai
- Source
- Stem Cell Research, Vol 76, Iss , Pp 103314- (2024)
- Subject
- Biology (General)
QH301-705.5
- Language
- English
- ISSN
- 1873-5061
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.