Cellosaurus cell line WIBR3_GBA1_IVS2_Het_3C3I (CVCL

Entry history
Cell line name	WIBR3_GBA1_IVS2_Het_3C3I
Accession	CVCL_D3YM
Resource Identification Initiative	To cite this cell line use: WIBR3_GBA1_IVS2_Het_3C3I (RRID:CVCL_D3YM)
Comments	Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358. Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations	Mutation; HGNC; 4177; GBA1; Simple_edited; p.Gly39Aspfs*3 (c.115+1G>A) (IVS2+1G>A) (IVS2DS,G-A,+1); ClinVar=VCV000093445; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Splice donor mutation that causes skipping of exon 2 (DOI=10.1101/2024.02.12.579917).
Disease	Parkinson's disease (NCIt: C26845) Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_9767 (WIBR3)
Sex of cell	Female
Age at sampling	Blastocyst stage
Category	Embryonic stem cell
Publications	DOI=10.1101/2024.02.12.579917 Busquets Figueras O., Li H.-Q., Syed K.M., Alvarez Jerez P., Dunnack J., Lo Bu R., Verma Y., Pangilinan G.R., Martin A., Straub J., Du Y.-X., Simon V.M., Poser S., Bush Z., Diaz J., Sahagun A., Gao J.-P., Hernandez D.G., Levine K.S., Booth E.O., Bateup H.S., Rio D.C., Hockemeyer D., Blauwendraat C., Soldner F.F. iSCORE-PD: an isogenic stem cell collection to research Parkinson disease. bioRxiv 2024:02.12.579917-02.12.579917(2024)
Entry creation	30-Jan-2024
Last entry update	02-May-2024
Version number	2