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Cellosaurus PNUSCRi001-A (CVCL_C1VH)

[Text version]
Cell line name PNUSCRi001-A
Synonyms GBA PD iPSC7; GBA PD7
Accession CVCL_C1VH
Resource Identification Initiative To cite this cell line use: PNUSCRi001-A (RRID:CVCL_C1VH)
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.Asn227Ser (c.680A>G) (N188S); ClinVar=VCV000004314; Zygosity=Heterozygous (PubMed=36332465).
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 56Y
Category Induced pluripotent stem cell
Publications

PubMed=36332465; DOI=10.1016/j.scr.2022.102959
Lee N., Moon H.-J., Park S.-H., Moon J.-Y., Park K.-K., Kim J.-H., Lee J.-H.
Generation of Parkinson's disease patient-derived human induced pluripotent stem cells line (PNUSCRi001-A) carrying a N227S mutation in GBA gene.
Stem Cell Res. 65:102959-102959(2022)

Cross-references
Cell line databases/resources hPSCreg; PNUSCRi001-A
Biological sample resources BioSamples; SAMEA110465759
Encyclopedic resources Wikidata; Q114312679
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4