ID   IBMS-iPSC-077-01
AC   CVCL_C1XX
SY   NTUHi002-A
DR   BioSamples; SAMEA110190487
DR   hPSCreg; NTUHi002-A
DR   Wikidata; Q114311692
RX   PubMed=35868289;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; 2295; CP; Simple; c.607+1delG; ClinVar=VCV000426814; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=35868289).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C189281; Aceruloplasminemia
DI   ORDO; Orphanet_48818; Aceruloplasminemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   71Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 30-01-24; Version: 5
//
RX   PubMed=35868289; DOI=10.1016/j.scr.2022.102856;
RA   Ou-Yang C.-H., Lin H.-I., Lin C.-H.;
RT   "Generation of a human induced pluripotent stem cell line NTUHi002-A
RT   from a patient with aceruloplasminemia harboring a homozygous splicing
RT   mutation c.607+1 delG in CP gene.";
RL   Stem Cell Res. 63:102856-102856(2022).
//