Cellosaurus cell line PNUSCRi001-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; PNUSCRi001-A
Biological sample resources	BioSamples; SAMEA110465759
Encyclopedic resources	Wikidata; Q114312679
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5