Cellosaurus cell line PNUSCRi002-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; PNUSCRi002-A
Biological sample resources	BioSamples; SAMEA110647800
Encyclopedic resources	Wikidata; Q114312680
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5