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Cellosaurus GIBHi004-A (CVCL_YT02)

[Text version]
Cell line name GIBHi004-A
Synonyms PARK7-L10P-C2
Accession CVCL_YT02
Resource Identification Initiative To cite this cell line use: GIBHi004-A (RRID:CVCL_YT02)
Comments From: Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences; Guangzhou; China.
Population: Chinese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:16369; PARK7; Simple; p.Leu10Pro (c.29T>C); Zygosity=Homozygous (PubMed=32534165).
Disease Parkinson disease 7, autosomal recessive early-onset (NCIt: C198606)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 23Y
Category Induced pluripotent stem cell
Publications

PubMed=32534165; DOI=10.1016/j.scr.2020.101845
Li Y.-P., Ibanez D.P., Fan W.-X., Zhao P., Chen S.-H., Abdul M.M., Jiang Y., Fu L.-X., Luo Z.-W., Liu Z.-H., Yang Y.-L., Guo J.-F., Volpe G., Kanwal S., Wang D.-Y., Tang B.-S., Li W.-J.
Generation of an induced pluripotent stem cell line (GIBHi004-A) from a Parkinson's disease patient with mutant DJ-1/PARK7 (p.L10P).
Stem Cell Res. 46:101845-101845(2020)

Cross-references
Cell line databases/resources hPSCreg; GIBHi004-A
SKIP; SKIP005753
Biological sample resources BioSamples; SAMEA6592712
Encyclopedic resources Wikidata; Q93561149
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9