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

Ning Liu; Yuan Zhang; Rui Dong; Yuqiang Lv; Ming Gao; Xiaomeng Yang; Yi Liu; Zhongtao Gai

doi:10.1016/j.scr.2024.103314

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

Stem Cell Res. 2024 Apr:76:103314. doi: 10.1016/j.scr.2024.103314. Epub 2024 Jan 22.

Authors

Ning Liu¹, Yuan Zhang², Rui Dong¹, Yuqiang Lv¹, Ming Gao¹, Xiaomeng Yang³, Yi Liu⁴, Zhongtao Gai¹

Affiliations

¹ 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.
² Department of Medical Laboratory, Shandong Medical College, Jinan, Shandong 250002, China.
³ 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. Electronic address: [email protected].
⁴ 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. Electronic address: [email protected].

PMID: 38401345
DOI: 10.1016/j.scr.2024.103314

Abstract

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.

MeSH terms

Amino Acid Metabolism, Inborn Errors* / genetics
Amino Acid Metabolism, Inborn Errors* / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Infant
Isovaleryl-CoA Dehydrogenase / deficiency*
Isovaleryl-CoA Dehydrogenase / genetics
Male
Mutation / genetics

Substances

Isovaleryl-CoA Dehydrogenase

Supplementary concepts

Acidemia, isovaleric