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Cellosaurus CBIGi002-A (CVCL_C0K6)

[Text version]
Cell line name CBIGi002-A
Synonyms 2890; GBA W378G, heterozygous
Accession CVCL_C0K6
Resource Identification Initiative To cite this cell line use: CBIGi002-A (RRID:CVCL_C0K6)
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; 4177; GBA1; Simple; p.Trp417Gly (c.1249T>G) (W378G); ClinVar=VCV001211295; Zygosity=Heterozygous (PubMed=36130446).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C0K7 (CBIGi002-A-1)
Sex of cell Female
Age at sampling 62Y
Category Induced pluripotent stem cell
Web pages https://cbigr-open.loris.ca/c-big_ipsc_catalog_May2022.pdf
Publications

PubMed=36130446; DOI=10.1016/j.scr.2022.102919
Chen C.X.-Q., Deneault E., Abdian N., You Z.-P., Sirois J., Nicouleau M., Shlaifer I., Villegas L., Boivin M.-N., Gaborieau L., Karamchandani J., Beitel L.K., Fon E.A., Durcan T.M.
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
Biological sample resources BioSamples; SAMEA13200837
Encyclopedic resources Wikidata; Q112929370
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number5