Cellosaurus logo
expasy logo

Cellosaurus NJMUi001-A (CVCL_VE08)

[Text version]
Cell line name NJMUi001-A
Synonyms iPKU-C10
Accession CVCL_VE08
Resource Identification Initiative To cite this cell line use: NJMUi001-A (RRID:CVCL_VE08)
Comments From: Obstetrics and Gynecology Hospital, Nanjing Medical University; Nanjing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 8582; PAH; Simple; p.Arg111Ter (c.331C>T); ClinVar=VCV000000581; Zygosity=Heterozygous (PubMed=29154227).
  • Mutation; HGNC; 8582; PAH; Simple; p.Tyr325Ter (c.975C>G); ClinVar=VCV000102921; Zygosity=Heterozygous (PubMed=29154227).
Disease Phenylketonuria (NCIt: C81315)
Phenylketonuria (ORDO: Orphanet_716)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3M
Category Induced pluripotent stem cell
Publications

PubMed=29154227; DOI=10.1016/j.scr.2017.11.008
Xu T.-H., Liang D., Zhang J.-J., Ji X.-Q., Hu H.-R., Sun Y., Jiang T., Wang X., Hu P., Xu Z.-F.
Generation of integration-free induced pluripotent stem cell line (NJMUi001-A) from a phenylketonuria patient.
Stem Cell Res. 25:179-182(2017)

Cross-references
Cell line databases/resources hPSCreg; NJMUi001-A
Encyclopedic resources Wikidata; Q54930653
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number8