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Cellosaurus IBMS-iPSC-077-01 (CVCL_C1XX)

[Text version]
Cell line name IBMS-iPSC-077-01
Synonyms NTUHi002-A
Accession CVCL_C1XX
Resource Identification Initiative To cite this cell line use: IBMS-iPSC-077-01 (RRID:CVCL_C1XX)
Comments From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
Population: Chinese; Taiwan.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2295; CP; Simple; c.607+1delG; ClinVar=VCV000426814; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=35868289).
Disease Aceruloplasminemia (NCIt: C189281)
Aceruloplasminemia (ORDO: Orphanet_48818)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 71Y
Category Induced pluripotent stem cell
Publications

PubMed=35868289; DOI=10.1016/j.scr.2022.102856
Ou-Yang C.-H., Lin H.-I., Lin C.-H.
Generation of a human induced pluripotent stem cell line NTUHi002-A from a patient with aceruloplasminemia harboring a homozygous splicing mutation c.607+1 delG in CP gene.
Stem Cell Res. 63:102856-102856(2022)

Cross-references
Cell line databases/resources hPSCreg; NTUHi002-A
Biological sample resources BioSamples; SAMEA110190487
Encyclopedic resources Wikidata; Q114311692
Entry history
Entry creation22-Sep-2022
Last entry update30-Jan-2024
Version number5