Cellosaurus cell line FJMUUHi001-A (CVCL

Cross-references
Cell line name	FJMUUHi001-A
Accession	CVCL_A1WA
Resource Identification Initiative	To cite this cell line use: FJMUUHi001-A (RRID:CVCL_A1WA)
Comments	From: Fujian Medical University Union Hospital; Fuzhou; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:16369; PARK7; Simple; p.Glu64Argfs*5 (c.189dupA); ClinVar=VCV000623671; Zygosity=Homozygous (PubMed=33485186).
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	32Y
Category	Induced pluripotent stem cell
Publications	PubMed=33485186; DOI=10.1016/j.scr.2021.102175 Zhi-Ting Chen, Zhen-Hua Zhao, Li-Na Chen, Fan Fan, Guo-En Cai, Hui-Dan Weng, Ying-Qing Wang, Lian-Ming Liao, Xiao-Chun Chen, En Huang, Qin-Yong Ye; Generation of an induced pluripotent stem cell line, FJMUUHi001-A, from a hereditary Parkinson's disease patient with homozygous mutation of c.189dupA in PARK7. Stem Cell Res. 51:102175-102175(2021)
Cell line databases/resources	hPSCreg; FJMUUHi001-A
Biological sample resources	BioSamples; SAMEA7211865
Encyclopedic resources	Wikidata; Q105506873
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6