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Cellosaurus GIBHi006-C (CVCL_YT05)

[Text version]
Cell line name GIBHi006-C
Synonyms PARKIN-C253Y-C4
Accession CVCL_YT05
Resource Identification Initiative To cite this cell line use: GIBHi006-C (RRID:CVCL_YT05)
Comments From: Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences; Guangzhou; China.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 8607; PRKN; Simple; p.Cys253Tyr (c.758G>A); ClinVar=VCV000645725; Zygosity=Homozygous (PubMed=32387897).
Disease Parkinson disease 2, autosomal recessive juvenile (NCIt: C198603)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YT03 ! GIBHi006-A
CVCL_YT04 ! GIBHi006-B
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.-P., 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-C
SKIP; SKIP005806
Encyclopedic resources Wikidata; Q93561157
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number8