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Cellosaurus WIBRe001-A-15 (CVCL_C7UZ)

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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; p.Met272Serfs (c.815_836del); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38405931).
  • Mutation; HGNC; HGNC:15469; DNAJC6; Simple_edited; c.823_826del; 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
Oriol Busquets Figueras, Han-Qin Li, Khaja Mohieddin Syed, Pilar Alvarez Jerez, Jesse Dunnack, Riana Lo Bu, Yogendra Verma, Gabriella Rita Pangilinan, Annika Martin, Jannes Straub, Yu-Xin Du ...Show all 25 authors... , Vivien Madeleine Simon, Steven Poser, Zipporiah Bush, Jessica Diaz, Atehsa Sahagun, Jian-Pu Gao, Dena Godwin Hernandez, Kristin S. Levine, Ezgi O. Booth, Helen S. Bateup, Donald C. Rio, Dirk Hockemeyer, Cornelis Blauwendraat, Frank F. Soldner; Show fewer authors
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-Apr-2025
Version number7