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Cellosaurus GIBHi003-A (CVCL_YC26)

[Text version]
Cell line name GIBHi003-A
Synonyms PINK1-I368N-C2
Accession CVCL_YC26
Resource Identification Initiative To cite this cell line use: GIBHi003-A (RRID:CVCL_YC26)
Comments From: Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences; Guangzhou; China.
Population: Caucasian; Polish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 14581; PINK1; Simple; p.Ile368Asn (c.1103T>A); dbSNP=rs774647122; Zygosity=Homozygous (PubMed=31778937).
Disease Parkinson disease 6, early onset (NCIt: C184990)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_EZ44 (ND40066)
Sex of cell Male
Age at sampling 64Y
Category Induced pluripotent stem cell
Publications

PubMed=31778937; DOI=10.1016/j.scr.2019.101607
Abdul M.M., Ibanez D.P., Zhao P., Liu H., Zhong X.-F., Li Y.-Y., Zhang M., Li W.-J., Li Y.-P., Ward C., Chen S.-H., Wang D.-Y., Qin B.-M., Esteban M.A., Wang X.-W., Fan W.-X., Luo Z.-W.
Generation of an induced pluripotent stem cell line (GIBHi003-A) from a Parkinson's disease patient with mutant PINK1 (p.I368N).
Stem Cell Res. 41:101607-101607(2019)

Cross-references
Cell line databases/resources hPSCreg; GIBHi003-A
Biological sample resources BioSamples; SAMEA6114046
Encyclopedic resources Wikidata; Q93561145
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number9