Cellosaurus cell line CBIGi002-A (CVCL

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; HGNC:4177; GBA1; Simple; p.Trp417Gly (c.1249T>G) (W378G); ClinVar=VCV001211295; Zygosity=Heterozygous (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

Children:

CVCL_C0K7 (CBIGi002-A-1)

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

Biological sample resources

BioSamples; SAMEA13200837

Encyclopedic resources

Wikidata; Q112929370

Entry history

Entry creation

23-Jun-2022

Last entry update

10-Apr-2025

Version number