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Cellosaurus IBMS-iPSC-043-05 (CVCL_UK20)

[Text version]

Cell line name IBMS-iPSC-043-05
Synonyms IBMSi012-A
Accession CVCL_UK20
Resource Identification Initiative To cite this cell line use: IBMS-iPSC-043-05 (RRID:CVCL_UK20)
Comments From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
Population: Chinese.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 9039; PLA2G6; Simple; p.Asp331Tyr (c.991G>T); ClinVar=VCV000030371; Zygosity=Homozygous (PubMed=30978640).
Disease Parkinson's disease (NCIt: C26845)
Adult-onset dystonia-parkinsonism (ORDO: Orphanet_199351)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 33Y
Category Induced pluripotent stem cell
Publications

PubMed=30978640; DOI=10.1016/j.scr.2019.101432
Cheng Y.-C., Lin H.-I., Syu S.-H., Lu H.-E., Huang C.-Y., Lin C.-H., Hsieh P.C.-H.
Reprogramming of a human induced pluripotent stem cell (iPSC) line (IBMSi012-A) from an early-onset Parkinson's disease patient harboring a homozygous p.D331Y mutation in the PLA2G6 gene.
Stem Cell Res. 37:101432-101432(2019)

Cross-references
Cell line collections BCRC; SC81108
Cell line databases/resources hPSCreg; IBMSi012-A
SKIP; SKIP005712
Encyclopedic resources Wikidata; Q94313052
Entry history
Entry creation25-Feb-2019
Last entry update20-May-2021
Version number8