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Generation of patient-derived IPSC lines from a girl with Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by compound heterozygous GTPBP3 variants

Wang, CL; Yuan, C; Ji, ZM; Yin, J; Zhang, ZM; Zhang, H; Zheng, BX; Zhou, W; Yang, SW

Yang, SW (通讯作者),Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Peoples R China.

STEM CELL RESEARCH, 2022; 61 ():

Abstract

Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease. The patient-derived PBM......

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