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Cellosaurus CBIGi002-A-1 (CVCL_C0K7)

[Text version]
Cell line name CBIGi002-A-1
Synonyms 2890-iso; GBA W378G-correction/2890; 2890 (isogenic correction)
Accession CVCL_C0K7
Resource Identification Initiative To cite this cell line use: CBIGi002-A-1 (RRID:CVCL_C0K7)
Comments From: Clinical Biospecimen Imaging and Genetic (C-BIG) Repository, Montreal Neurological Institute, McGill University; Montreal; Canada.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4177; GBA1; Simple_corrected; p.Trp417Gly (c.1249T>G) (W378G); ClinVar=VCV001211295; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36130446).
Disease Parkinson disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_C0K6 (CBIGi002-A)
Sex of cell Female
Age at sampling 62Y
Category Induced pluripotent stem cell
Web pages Provider; C-BIG; -; https://cbigr-open.loris.ca/C-BIG_ipsc_catalog_august_2023.pdf
Publications

PubMed=36130446; DOI=10.1016/j.scr.2022.102919
Carol Xiu-Qing Chen, Eric Deneault, Narges Abdian, Zhi-Peng You, Julien Sirois, Michael Nicouleau, Irina Shlaifer, Lorenza Villegas, Marie-Noelle Boivin, Lydiane Gaborieau, Jason Karamchandani ...Show all 14 authors... , Lenore K. Beitel, Edward A. Fon, Thomas M. Durcan; Show fewer authors
Generation of patient-derived pluripotent stem cell-lines and CRISPR modified isogenic controls with mutations in the Parkinson's associated GBA gene.
Stem Cell Res. 64:102919-102919(2022)

Cross-references
Cell line databases/resources hPSCreg; CBIGi002-A-1
Biological sample resources BioSamples; SAMEA13204586
Encyclopedic resources Wikidata; Q112929371
Entry history
Entry creation23-Jun-2022
Last entry update10-Apr-2025
Version number7