ID   DPNJMUi001-A
AC   CVCL_C0CG
DR   BioSamples; SAMEA13371559
DR   hPSCreg; DPNJMUi001-A
DR   Wikidata; Q112929464
RX   PubMed=35413567;
CC   From: Children's Hospital of Nanjing Medical University; Nanjing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 14880; GTPBP3; Simple; p.Gly182Glu (c.545G>A); Zygosity=Heterozygous (PubMed=35413567).
CC   Sequence variation: Mutation; HGNC; 14880; GTPBP3; Simple; p.Cys398Tyr (c.1193G>A) (p.Cys430Tyr, c.1289G>A); Zygosity=Heterozygous (PubMed=35413567).
CC   Omics: Deep exome analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C187986; Combined oxidative phosphorylation deficiency 23
DI   ORDO; Orphanet_444013; Combined oxidative phosphorylation defect type 23
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=35413567; DOI=10.1016/j.scr.2022.102775;
RA   Wang C.-L., Yuan C., Ji Z.-M., Yin J., Zhang Z.-M., Zhang H.,
RA   Zheng B.-X., Zhou W., Yang S.-W.;
RT   "Generation of patient-derived IPSC lines from a girl with combined
RT   oxidative phosphorylation deficiency 23 (COXPD23) caused by compound
RT   heterozygous GTPBP3 variants.";
RL   Stem Cell Res. 61:102775-102775(2022).
//