Cellosaurus cell line WMUi003-A (CVCL

Cross-references
Cell line name	WMUi003-A
Synonyms	502-RP-i01A
Accession	CVCL_A1XL
Resource Identification Initiative	To cite this cell line use: WMUi003-A (RRID:CVCL_A1XL)
Comments	From: Wenzhou Medical University; Wenzhou; China. Population: Chinese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:29326; SLC7A14; Simple; p.Gly330Arg (c.988G>A); ClinVar=VCV000126446; Zygosity=Homozygous (PubMed=33207307).
Disease	Retinitis pigmentosa (NCIt: C85045) Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	6Y
Category	Induced pluripotent stem cell
Publications	PubMed=33207307; DOI=10.1016/j.scr.2020.102075 Li Y.-P., Liu H., Jin Z.-B. Generation of three human iPSC lines from a retinitis pigmentosa family with SLC7A14 mutation. Stem Cell Res. 49:102075-102075(2020)
Cell line databases/resources	hPSCreg; WMUi003-A
Biological sample resources	BioSamples; SAMEA6907389
Encyclopedic resources	Wikidata; Q105511752
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	5