Cellosaurus cell line PPMI.I.1113.2 (CVCL

Cellosaurus PPMI.I.1113.2 (CVCL_D5US)

Cross-references
Cell line name	PPMI.I.1113.2
Synonyms	PPMI53339; PPMI_53339; CDIi038-A; FCDI_11323
Accession	CVCL_D5US
Resource Identification Initiative	To cite this cell line use: PPMI.I.1113.2 (RRID:CVCL_D5US)
Comments	Part of: Parkinson's Progression Markers Initiative (PPMI) cell line panel. Population: Caucasian, not Hispanic. Omics: Genome sequenced. Omics: Transcriptome analysis by RNAseq. Miscellaneous: PPMI study cohort PD, PPMI study subgroup GBA. Caution: The PPMI53339 and PPMI_53339 identifiers correspond to an internal donor ID at PPMI. As multiple iPSC clones have been established from the cells of this donor, these identifiers should not be cited in a publication. Note that FujiFilm Cellular Dynamics, Inc (FCDI) and hPSCreg have assigned only a single identifier for all of the PBMC derived clones. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=36950378).
Disease	Parkinson's disease (NCIt: C26845) Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_D5UR ! PPMI.I.1113.1 CVCL_D5UT ! PPMI.I.1113.3
Sex of cell	Female
Age at sampling	57Y
Category	Induced pluripotent stem cell
Web pages	https://www.ppmi-info.org/access-data-specimens/download-data https://www.michaeljfox.org/sites/default/files/media/document/2018%20-%20PDTC%20-%20NKP%20Poster%20on%20iPSCs.pdf
Publications	PubMed=36950378; DOI=10.1016/j.xgen.2023.100261; PMCID=PMC10025424 Bressan E., Reed X., Bansal V., Hutchins E.D., Cobb M.M., Webb M.G., Alsop E., Grenn F.P., Illarionova A., Savytska N., Violich I., Broeer S., Fernandes N., Sivakumar R., Beilina A., Billingsley K.J., Berghausen J., Pantazis C.B., Pitz V., Patel D., Daida K., Meechoovet B., Reiman R., Courtright-Lim A., Logemann A., Antone J., Barch M., Kitchen R., Li Y., Dalgard C.L., Rizzu P., Hernandez D.G., Hjelm B.E., Nalls M.A., Gibbs J.R., Finkbeiner S., Cookson M.R., Van Keuren-Jensen K., Craig D.W., Singleton A.B., Heutink P., Blauwendraat C. American Genome Center The Foundational Data Initiative for Parkinson Disease: enabling efficient translation from genetic maps to mechanism. Cell Genom. 3:100261.1-100261.25(2023)
Cell line databases/resources	hPSCreg; CDIi038-A
Biological sample resources	BioSamples; SAMEA115473810
Encyclopedic resources	Wikidata; Q127383600
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3