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Cellosaurus PNUSCRi004-A (CVCL_C7TW)

[Text version]
Cell line name PNUSCRi004-A
Synonyms GBA PD iPSC8; GBA PD8
Accession CVCL_C7TW
Resource Identification Initiative To cite this cell line use: PNUSCRi004-A (RRID:CVCL_C7TW)
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.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=36805467).
  • Mutation; HGNC; 4177; GBA1; Simple; p.Ala495Pro (c.1483G>C) (A456P); ClinVar=VCV000093450; Zygosity=Heterozygous (PubMed=36805467).
  • Mutation; HGNC; 4177; GBA1; Simple; p.Val499Val (c.1497G>C) (V460V); ClinVar=VCV000093451; Zygosity=Heterozygous (PubMed=36805467).
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 Female
Age at sampling 58Y
Category Induced pluripotent stem cell
Publications

PubMed=36805467; DOI=10.1016/j.scr.2023.103051
Moon H.-J., Lee N., Moon J.-Y., Lee J.-H., Kim J.-H.
Characterization of human induced pluripotent stem cells line (PNUSCRi004-A) from a Parkinson's disease patient carrying L483P, A495P and V499V mutations.
Stem Cell Res. 68:103051-103051(2023)

Cross-references
Cell line databases/resources hPSCreg; PNUSCRi004-A
Biological sample resources BioSamples; SAMEA112286244
Encyclopedic resources Wikidata; Q117704783
Entry history
Entry creation21-Mar-2023
Last entry update29-Jun-2023
Version number2