Cellosaurus cell line WMUi021-A (CVCL

Cross-references
Cell line name	WMUi021-A
Synonyms	GS-UiPSC
Accession	CVCL_A5GL
Resource Identification Initiative	To cite this cell line use: WMUi021-A (RRID:CVCL_A5GL)
Comments	From: Wenzhou Medical University; Wenzhou; China. Population: Chinese; Han. Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations	Mutation; HGNC; HGNC:10912; SLC12A3; Simple; p.Thr60Met (c.179C>T); ClinVar=VCV000101514; Zygosity=Homozygous (PubMed=33735743).
Disease	Gitelman syndrome (NCIt: C84730) Gitelman syndrome (ORDO: Orphanet_358)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	7Y
Category	Induced pluripotent stem cell
Publications	PubMed=33735743; DOI=10.1016/j.scr.2021.102280 Xiao-Ling Guo, Reng-Cheng Qian, Xiao-Ou Shan, Liang Yang, Hui-Hui Chen, Yin-Juan Ding, Cong-De Chen, Mao-Ping Chu, Jian Lin, De-Xuan Wang; Generation of a human induced pluripotent stem cell line (WMUi021-A) from a Gitelman syndrome patient carrying a SLC12A3 gene mutation (c.179C > T). Stem Cell Res. 53:102280-102280(2021)
Cell line databases/resources	hPSCreg; WMUi021-A
Encyclopedic resources	Wikidata; Q107117483
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5