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Cellosaurus PNUSCRi003-A (CVCL_C7TV)

[Text version]
Cell line name PNUSCRi003-A
Synonyms GBA Gaucher iPSC1
Accession CVCL_C7TV
Resource Identification Initiative To cite this cell line use: PNUSCRi003-A (RRID:CVCL_C7TV)
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; HGNC:4177; GBA1; Simple; p.Arg87Cys (c.259C>T); ClinVar=VCV000004321; Zygosity=Unspecified (hPSCreg=PNUSCRi003-A).
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Arg296Gln (c.887G>A) (R247Q); ClinVar=VCV000004328; Zygosity=Unspecified (hPSCreg=PNUSCRi003-A).
Disease Gaucher disease (NCIt: C61268)
Gaucher disease (ORDO: Orphanet_355)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 40-44Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; PNUSCRi003-A
Biological sample resources BioSamples; SAMEA112283524
Encyclopedic resources Wikidata; Q117704781
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3