Cellosaurus cell line WMUi016-A (CVCL

Cross-references
Cell line name	WMUi016-A
Synonyms	X-Dent-UiPSC
Accession	CVCL_A4YB
Resource Identification Initiative	To cite this cell line use: WMUi016-A (RRID:CVCL_A4YB)
Comments	From: Wenzhou Medical University; Wenzhou; China. Population: Chinese; Han. Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations	Mutation; HGNC; HGNC:2023; CLCN5; Simple; p.Arg718Ter (c.2152C>T); ClinVar=VCV000011797; Zygosity=Hemizygous (PubMed=33545640).
Disease	Dent disease (NCIt: C123260) Dent disease type 1 (ORDO: Orphanet_93622)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	4Y
Category	Induced pluripotent stem cell
Publications	PubMed=33545640; DOI=10.1016/j.scr.2021.102209 Hui-Hui Chen, Yin-Juan Ding, Wei-Zhong Zhou, Jia-Jia Li, Wei-Te Qian, Zhe Zhang, Chao Li, Hong-Fei Tong, Xing Rong, Mao-Ping Chu, Cong-De Chen ...Show all 13 authors... , De-Xuan Wang, Xiao-Ling Guo; Show fewer authors Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene. Stem Cell Res. 51:102209-102209(2021)
Cell line databases/resources	hPSCreg; WMUi016-A
Encyclopedic resources	Wikidata; Q107117477
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5