ID   IBMS-iPSC-070-02
AC   CVCL_A4YW
SY   IBMSi025-A
DR   BioSamples; SAMEA7873754
DR   hPSCreg; IBMSi025-A
DR   Wikidata; Q107115414
RX   PubMed=33517123;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 15894; PANK2; Simple; p.Leu111Gln (c.332T>A); ClinVar=VCV000193506; Zygosity=Heterozygous (PubMed=33517123).
CC   Sequence variation: Mutation; HGNC; 15894; PANK2; Simple; c.1413-9_-14dupTTCCCC; Zygosity=Heterozygous (PubMed=33517123).
CC   Sequence variation: Mutation; HGNC; 15894; PANK2; Simple; p.Asn500Ile (c.1499A>T); dbSNP=rs759332123; Zygosity=Heterozygous (PubMed=33517123).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84988; Pantothenate kinase-associated neurodegeneration
DI   ORDO; Orphanet_216873; Atypical pantothenate kinase-associated neurodegeneration
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   44Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33517123; DOI=10.1016/j.scr.2021.102190;
RA   Ou-Yang C.-H., Tai C.-H., Lin H.-Y., Huang C.-Y., Lin C.-H.;
RT   "Generation of a human induced pluripotent stem cell (iPSC) line
RT   (IBMS-iPSC-070-02) from a patient with neurodegeneration with brain
RT   iron accumulation (NBIA) having compound heterozygous mutations in
RT   PANK2 gene.";
RL   Stem Cell Res. 51:102190-102190(2021).
//