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Cellosaurus WIBRe001-A-45 (CVCL_D3YN)

[Text version]
Cell line name WIBRe001-A-45
Synonyms WIBR3_GBA1_IVS2_Het_3C4B; AECMe002-A-45
Accession CVCL_D3YN
Resource Identification Initiative To cite this cell line use: WIBRe001-A-45 (RRID:CVCL_D3YN)
Comments From: Albert Einstein College of Medicine; New York; USA.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:4177; GBA1; Simple_edited; p.Gly39Aspfs*3 (c.115+1G>A) (IVS2+1G>A) (IVS2DS,G-A,+1); ClinVar=VCV000093445; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Splice donor mutation that causes skipping of exon 2 (PubMed=38405931).
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
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-45
Biological sample resources BioSamples; SAMEA115873269
Encyclopedic resources Wikidata; Q127384700
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number4