Cellosaurus cell line GIBHi006-A (CVCL

Cross-references
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 site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 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_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 Muqddas Tariq, Hao Liu, David P. Ibanez, Yun-Pan Li, Shu-Han Chen, Meng-Ling Jiang, Wen-Xia Fan, Ping Zhao, Zhi-Wei Luo, Dong-Ye Wang, Shahzina Kanwal; 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)
Cell line databases/resources	hPSCreg; GIBHi006-A SKIP; SKIP005804
Encyclopedic resources	Wikidata; Q93561151
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	9