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Cellosaurus GIBHi006-A (CVCL_YT03)

[Text version]

Cell line name GIBHi006-A
Synonyms PARKIN-C253Y-C2
Accession CVCL_YT03
Resource Identification Initiative To cite this cell line use: GIBHi006-A (RRID:CVCL_YT03)
Comments From: Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences; Guangzhou; China.
Population: Caucasian.
Derived from sampling site: Skin.
Sequence variations Mutation; HGNC; 8607; PRKN; Simple; p.Cys253Tyr (c.758G>A); ClinVar=VCV000645725; Zygosity=Homozygous (PubMed=32387897).
Disease Parkinson's disease (NCIt: C26845)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YT04 ! GIBHi006-B
CVCL_YT05 ! GIBHi006-C
Sex of cell Female
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=32387897; DOI=10.1016/j.scr.2020.101822
Tariq M., Liu H., Ibanez D.P., Li Y., Chen S.-H., Jiang M.-L., Fan W.-X., Zhao P., Luo Z.-W., Wang D.-Y., Kanwal S.
Generation of three induced pluripotent stem cell lines from a Parkinson's disease patient with mutant PARKIN (p.C253Y).
Stem Cell Res. 45:101822-101822(2020)

Cross-references
Cell line databases/resources hPSCreg; GIBHi006-A
SKIP; SKIP005804
Other Wikidata; Q93561151
Entry history
Entry creation12-Mar-2020
Last entry update20-May-2021
Version number5