Generation of an induced pluripotent stem cell (iPSC) line (XMUi001-A) derived from a patient harboring homozygous mutations c.370G > A (p.Gly124Ser) in the COQ4 gene
Summary
Primary coenzyme Q10 deficiency type 7 (CoQ10D7) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutation in the COQ4 gene on chromosome 9q34. The c.370G > A mutation in the COQ4 gene has been identified as a founder mutation in the Southern China. We established an induced pluripotent stem cell (iPSC) line from a patient harboring the c.370G > A homozygous mutation. The cell line exhibited typical iPSC morphology, expressed high levels of stemness markers, and exhibited normal karyotype. The generation of these iPSCs provides a valuable CoQ10D7 model for studying the molecular and cellular consequences of CoQ10 deficiency. Copyright © 2025. Published by Elsevier B.V.
| Authors | Wang M, Pan P, Jian J, Zhuang W, Chen Z, Lu M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Jul 3;87:103764 |
| PubMed | 40645015 |
| DOI | 10.1016/j.scr.2025.103764 |