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Cellosaurus DPNJMUi001-A (CVCL_C0CG)

[Text version]
Cell line name DPNJMUi001-A
Accession CVCL_C0CG
Resource Identification Initiative To cite this cell line use: DPNJMUi001-A (RRID:CVCL_C0CG)
Comments From: Children's Hospital of Nanjing Medical University; Nanjing; China.
Population: Chinese; Han.
Omics: Deep exome analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 14880; GTPBP3; Simple; p.Gly182Glu (c.545G>A); Zygosity=Heterozygous (PubMed=35413567).
  • Mutation; HGNC; 14880; GTPBP3; Simple; p.Cys398Tyr (c.1193G>A) (p.Cys430Tyr, c.1289G>A); Zygosity=Heterozygous (PubMed=35413567).
Disease Combined oxidative phosphorylation deficiency 23 (NCIt: C187986)
Combined oxidative phosphorylation defect type 23 (ORDO: Orphanet_444013)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5Y
Category Induced pluripotent stem cell

PubMed=35413567; DOI=10.1016/j.scr.2022.102775
Wang C.-L., Yuan C., Ji Z.-M., Yin J., Zhang Z.-M., Zhang H., Zheng B.-X., Zhou W., Yang S.-W.
Generation of patient-derived IPSC lines from a girl with combined oxidative phosphorylation deficiency 23 (COXPD23) caused by compound heterozygous GTPBP3 variants.
Stem Cell Res. 61:102775-102775(2022)

Cell line databases/resources hPSCreg; DPNJMUi001-A
Biological sample resources BioSamples; SAMEA13371559
Encyclopedic resources Wikidata; Q112929464
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4