ID   WMUi021-A
AC   CVCL_A5GL
SY   GS-UiPSC
DR   hPSCreg; WMUi021-A
DR   Wikidata; Q107117483
RX   PubMed=33735743;
CC   From: Wenzhou Medical University; Wenzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 10912; SLC12A3; Simple; p.Thr60Met (c.179C>T); ClinVar=VCV000101514; Zygosity=Homozygous (PubMed=33735743).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C84730; Gitelman syndrome
DI   ORDO; Orphanet_358; Gitelman syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33735743; DOI=10.1016/j.scr.2021.102280;
RA   Guo X.-L., Qian R.-C., Shan X.-O., Yang L., Chen H.-H., Ding Y.-J.,
RA   Chen C.-D., Chu M.-P., Lin J., Wang D.-X.;
RT   "Generation of a human induced pluripotent stem cell line (WMUi021-A)
RT   from a Gitelman syndrome patient carrying a SLC12A3 gene mutation
RT   (c.179C > T).";
RL   Stem Cell Res. 53:102280-102280(2021).
//