ID   ONHi001-A
AC   CVCL_D0KC
DR   hPSCreg; ONHi001-A
DR   Wikidata; Q123033215
RX   PubMed=37209469;
CC   From: Osaka National Hospital; Osaka; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 9039; PLA2G6; Simple; p.Gln173Ter (c.517C>T); ClinVar=VCV000159773; Zygosity=Heterozygous (PubMed=37209469).
CC   Sequence variation: Mutation; HGNC; 9039; PLA2G6; Simple; p.Lys545Arg (c.1634A>G); ClinVar=VCV000159741; Zygosity=Heterozygous (PubMed=37209469).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C202073; Neurodegeneration with brain iron accumulation 2A
DI   ORDO; Orphanet_35069; Infantile neuroaxonal dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37209469; DOI=10.1016/j.scr.2023.103122;
RA   Fukusumi H., Togo K., Beck G., Shofuda T., Kanematsu D., Yamamoto A.,
RA   Sumida M., Baba K., Mochizuki H., Kanemura Y.;
RT   "Human induced pluripotent stem cell line (ONHi001-A) generated from a
RT   patient with infantile neuroaxonal dystrophy having PLA2G6 c.517C > T
RT   (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous
RT   mutations.";
RL   Stem Cell Res. 69:103122-103122(2023).
//