Cellosaurus cell line GIBHi003-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; GIBHi003-A
Biological sample resources	BioSamples; SAMEA6114046
Encyclopedic resources	Wikidata; Q93561145
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	10