Cellosaurus cell line WIBR3_VPS13C_FS_Homo_E10-2 (CVCL

Entry history
Cell line name	WIBR3_VPS13C_FS_Homo_E10-2
Accession	CVCL_D3YL
Resource Identification Initiative	To cite this cell line use: WIBR3_VPS13C_FS_Homo_E10-2 (RRID:CVCL_D3YL)
Comments	Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358. Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations	Mutation; HGNC; 23594; VPS13C; Simple_edited; p.Trp393Cysfs*6 (c.1179del); Zygosity=Homozygous; Note=By CRISPR/Cas9 (DOI=10.1101/2024.02.12.579917).
Disease	Parkinson disease 23, autosomal recessive, early onset (NCIt: C203536) Young-onset Parkinson disease (ORDO: Orphanet_2828)
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