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Cellosaurus ONHi001-A (CVCL_D0KC)

[Text version]
Cell line name ONHi001-A
Accession CVCL_D0KC
Resource Identification Initiative To cite this cell line use: ONHi001-A (RRID:CVCL_D0KC)
Comments From: Osaka National Hospital; Osaka; Japan.
Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 9039; PLA2G6; Simple; p.Gln173Ter (c.517C>T); ClinVar=VCV000159773; Zygosity=Heterozygous (PubMed=37209469).
  • Mutation; HGNC; 9039; PLA2G6; Simple; p.Lys545Arg (c.1634A>G); ClinVar=VCV000159741; Zygosity=Heterozygous (PubMed=37209469).
Disease Neurodegeneration with brain iron accumulation 2A (NCIt: C202073)
Infantile neuroaxonal dystrophy (ORDO: Orphanet_35069)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6Y
Category Induced pluripotent stem cell
Publications

PubMed=37209469; DOI=10.1016/j.scr.2023.103122
Fukusumi H., Togo K., Beck G., Shofuda T., Kanematsu D., Yamamoto A., Sumida M., Baba K., Mochizuki H., Kanemura Y.
Human induced pluripotent stem cell line (ONHi001-A) generated from a patient with infantile neuroaxonal dystrophy having PLA2G6 c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations.
Stem Cell Res. 69:103122-103122(2023)

Cross-references
Cell line databases/resources hPSCreg; ONHi001-A
Encyclopedic resources Wikidata; Q123033215
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2