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Cellosaurus PNUSCRi002-A (CVCL_C1VI)

[Text version]
Cell line name PNUSCRi002-A
Synonyms GBA PD iPSC9; GBA PD9
Accession CVCL_C1VI
Resource Identification Initiative To cite this cell line use: PNUSCRi002-A (RRID:CVCL_C1VI)
Comments From: Convergence Stem Cell Research Center, Pusan National University; Yangsan; South Korea.
Population: Korean.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple; p.Arg159Trp (c.475C>T) (R120W); ClinVar=VCV000065570; Zygosity=Heterozygous (PubMed=36274270).
Disease Parkinson's disease (NCIt: C26845)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 52Y
Category Induced pluripotent stem cell
Publications

PubMed=36274270; DOI=10.1016/j.scr.2022.102948
Moon H.-J., Lee N., Moon J.-Y., Park K.-K., Lee J.-H., Kim J.-H.
Human induced pluripotent stem cells line (PNUSCRi002-A) from a patient with Parkinson's disease carrying a R159W mutation in the GBA gene.
Stem Cell Res. 65:102948-102948(2022)

Cross-references
Cell line databases/resources hPSCreg; PNUSCRi002-A
Biological sample resources BioSamples; SAMEA110647800
Encyclopedic resources Wikidata; Q114312680
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4