Generation of induced pluripotent stem cell line ISMMSi060-A from a patient with combined oxidative phosphorylation deficiency 25.

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Tác giả: Erdene Baljinnyam, Ruiqi Hu, Norman N Liu, Samuele G Marro, Sophia E Salemi, Bryn D Webb

Ngôn ngữ: eng

Ký hiệu phân loại: 271.6 *Passionists and Redemptorists

Thông tin xuất bản: England : Stem cell research , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 218719

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We have described a novel mitochondrial disorder caused by biallelic pathogenic variants in the methionyl-tRNA synthetase 2 gene (MARS2), now termed Combined oxidative phosphorylation deficiency 25 (COXPD25). This study focuses on the generation and characterization of induced pluripotent stem cells (iPSCs) from fibroblasts of a patient with COXPD25. The resulting iPSC line ISMMSi060-A, carries the compound heterozygous variants c.550C >
T
p.Gln184* and c.424C >
T
p.Arg142Trp in MARS2. The iPSCs exhibited normal cell morphology, expression of pluripotency markers, genome integrity, and the ability to differentiate.

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