Cellosaurus cell line WIBRe001-A-15 (CVCL

Cellosaurus WIBRe001-A-15 (CVCL_C7UZ)

Cross-references
Cell line name	WIBRe001-A-15
Synonyms	WIBR3_DNAJC6_c.801-2A>G+FS/FS_G12-2; WIBR3_DNAJC6_c.801-2A>G+FS/c.801-2A>G_G12-2; CALe002-A-15
Accession	CVCL_C7UZ
Resource Identification Initiative	To cite this cell line use: WIBRe001-A-15 (RRID:CVCL_C7UZ)
Comments	Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358. Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations	Mutation; HGNC; HGNC:15469; DNAJC6; Simple_edited; c.801-2A>G (IVS6AS,A-G,-2); ClinVar=VCV000088854; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Splice acceptor mutation (PubMed=38405931). Mutation; HGNC; HGNC:15469; DNAJC6; Simple_edited; c.823_826del; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38405931). Mutation; HGNC; HGNC:15469; DNAJC6; Simple_edited; p.Met272Serfs (c.815_836del); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38405931).
Disease	Parkinson disease 19A, juvenile-onset (NCIt: C198608) Parkinson disease 19B, early-onset (NCIt: C198609) 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	PubMed=38405931; DOI=10.1101/2024.02.12.579917; PMCID=PMC10888955 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)
Cell line databases/resources	hPSCreg; WIBRe001-A-15
Biological sample resources	BioSamples; SAMEA114410564
Encyclopedic resources	Wikidata; Q123033882
Entry history
Entry creation	29-Jun-2023
Last entry update	19-Dec-2024
Version number	6