Cellosaurus cell line FDEENTi002-A (CVCL

Cross-references
Cell line name	FDEENTi002-A
Synonyms	XTW-C5
Accession	CVCL_WP90
Resource Identification Initiative	To cite this cell line use: FDEENTi002-A (RRID:CVCL_WP90)
Comments	From: Eye & ENT Hospital, Shanghai Medical School, Fudan University; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:12703; BEST1; Simple; p.Asn296Lys (c.888C>A); ClinVar=VCV000546666; Zygosity=Heterozygous (PubMed=31146250).
Disease	Vitelliform macular dystrophy (NCIt: C118788) Best vitelliform macular dystrophy (ORDO: Orphanet_1243)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	44Y
Category	Induced pluripotent stem cell
Publications	PubMed=31146250; DOI=10.1016/j.scr.2019.101459; PMCID=PMC7156156 Xin-Yue Bai, Xian-Jie Yang, Ling Chen; Establishment of an induced pluripotent stem cell line (FDEENTi002-A) from a patient with Best's disease carrying c.888C>A mutation in BEST1 gene. Stem Cell Res. 38:101459-101459(2019)
Cell line databases/resources	hPSCreg; FDEENTi002-A
Biological sample resources	BioSamples; SAMEA5712219
Encyclopedic resources	Wikidata; Q93551912
Entry history
Entry creation	05-Jul-2019
Last entry update	19-Dec-2024
Version number	8