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Cellosaurus WIBR3_GBA1_IVS2_D6B (CVCL_C7VE)

[Text version]
Cell line name WIBR3_GBA1_IVS2_D6B
Accession CVCL_C7VE
Resource Identification Initiative To cite this cell line use: WIBR3_GBA1_IVS2_D6B (RRID:CVCL_C7VE)
Comments Miscellaneous: Cell line not distributed because it failed quality controls (Direct_author_submission).
Miscellaneous: Cell line information from personal communication of Booth E.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple_edited; p.Gly39Aspfs*3 (c.115+1G>A) (IVS2+1G>A) (IVS2DS,G-A,+1); ClinVar=VCV000093445; Zygosity=Homozygous; Note=By CRISPR/Cas9. Splice donor mutation that causes skipping of exon 2 (Direct_author_submission).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
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
Encyclopedic resources Wikidata; Q123033872
Entry history
Entry creation29-Jun-2023
Last entry update02-May-2024
Version number4