ID   WMUi016-A
AC   CVCL_A4YB
SY   X-Dent-UiPSC
DR   hPSCreg; WMUi016-A
DR   Wikidata; Q107117477
RX   PubMed=33545640;
CC   From: Wenzhou Medical University; Wenzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2023; CLCN5; Simple; p.Arg718Ter (c.2152C>T); ClinVar=VCV000011797; Zygosity=Hemizygous (PubMed=33545640).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C123260; Dent disease
DI   ORDO; Orphanet_93622; Dent disease type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33545640; DOI=10.1016/j.scr.2021.102209;
RA   Chen H.-H., Ding Y.-J., Zhou W.-Z., Li J.-J., Qian W.-T., Zhang Z.,
RA   Li C., Tong H.-F., Rong X., Chu M.-P., Chen C.-D., Wang D.-X.,
RA   Guo X.-L.;
RT   "Establishment of an induced pluripotent stem cell line (WMUi016-A)
RT   from a patient with X-linked Dent disease (X-Dent) carrying the
RT   hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene.";
RL   Stem Cell Res. 51:102209-102209(2021).
//