Cellosaurus logo
expasy logo

Cellosaurus WIBRe001-A-14 (CVCL_C7UY)

[Text version]
Cell line name WIBRe001-A-14
Synonyms WIBR3_DNAJC6_c.801-2A>G+FS/c.801-2A>G+FS_A12-2; CALe002-A-14
Accession CVCL_C7UY
Resource Identification Initiative To cite this cell line use: WIBRe001-A-14 (RRID:CVCL_C7UY)
Comments Miscellaneous: Cell line not distributed because it failed quality controls (Direct_author_submission).
Miscellaneous: Cell line information from personal communication of Booth, Ezgi O.
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=Homozygous; Note=By CRISPR/Cas9. Splice acceptor mutation (Direct_author_submission).
  • Mutation; HGNC; HGNC:15469; DNAJC6; Simple_edited; c.823_824insC; Zygosity=Homozygous; Note=By CRISPR/Cas9 (Direct_author_submission).
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
Cross-references
Cell line databases/resources hPSCreg; WIBRe001-A-14
Biological sample resources BioSamples; SAMEA114332374
Encyclopedic resources Wikidata; Q123033881
Entry history
Entry creation29-Jun-2023
Last entry update19-Dec-2024
Version number6