Cellosaurus cell line ONHi001-A (CVCL

Cross-references
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; HGNC:9039; PLA2G6; Simple; p.Gln173Ter (c.517C>T); ClinVar=VCV000159773; Zygosity=Heterozygous (PubMed=37209469). Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; ONHi001-A
Encyclopedic resources	Wikidata; Q123033215
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3