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Cellosaurus IBMS-iPSC-070-02 (CVCL_A4YW)

[Text version]
Cell line name IBMS-iPSC-070-02
Synonyms IBMSi025-A
Accession CVCL_A4YW
Resource Identification Initiative To cite this cell line use: IBMS-iPSC-070-02 (RRID:CVCL_A4YW)
Comments From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 15894; PANK2; Simple; p.Leu111Gln (c.332T>A); ClinVar=VCV000193506; Zygosity=Heterozygous (PubMed=33517123).
  • Mutation; HGNC; 15894; PANK2; Simple; c.1413-9_-14dupTTCCCC; Zygosity=Heterozygous (PubMed=33517123).
  • Mutation; HGNC; 15894; PANK2; Simple; p.Asn500Ile (c.1499A>T); dbSNP=rs759332123; Zygosity=Heterozygous (PubMed=33517123).
Disease Pantothenate kinase-associated neurodegeneration (NCIt: C84988)
Atypical pantothenate kinase-associated neurodegeneration (ORDO: Orphanet_216873)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 44Y
Category Induced pluripotent stem cell
Publications

PubMed=33517123; DOI=10.1016/j.scr.2021.102190
Ou-Yang C.-H., Tai C.-H., Lin H.-Y., Huang C.-Y., Lin C.-H.
Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-070-02) from a patient with neurodegeneration with brain iron accumulation (NBIA) having compound heterozygous mutations in PANK2 gene.
Stem Cell Res. 51:102190-102190(2021)

Cross-references
Cell line databases/resources hPSCreg; IBMSi025-A
Biological sample resources BioSamples; SAMEA7873754
Encyclopedic resources Wikidata; Q107115414
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5