Cellosaurus logo
expasy logo

Cellosaurus WIBRe001-A-15 (CVCL_C7UZ)

[Text version]
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; 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; 15469; DNAJC6; Simple_edited; c.823_826del; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38405931).
  • Mutation; 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)

Cross-references
Cell line databases/resources hPSCreg; WIBRe001-A-15
Biological sample resources BioSamples; SAMEA114410564
Encyclopedic resources Wikidata; Q123033882
Entry history
Entry creation29-Jun-2023
Last entry update10-Sep-2024
Version number5