ID   WMUi019-A
AC   CVCL_A4YA
SY   BS-UiPSCs
DR   hPSCreg; WMUi019-A
DR   Wikidata; Q107117481
RX   PubMed=33607471;
CC   From: Wenzhou Medical University; Wenzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 10910; SLC12A1; Simple; p.Ala244Asp (c.731C>A); Zygosity=Homozygous (PubMed=33607471).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C178412; Bartter syndrome, type 1
DI   ORDO; Orphanet_93604; Antenatal Bartter syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33607471; DOI=10.1016/j.scr.2021.102228;
RA   Ji W.-P., Wang D.-X., Chen C.-D., Chen H.-H., Ding Y.-J., Li C.,
RA   Rong X., Shan X.-O., Chu M.-P., Shen X., Guo X.-L.;
RT   "Generation of an induced pluripotent stem cell line from a Bartter
RT   syndrome patient with the homozygote mutation p.A244D (c.731C>A) in
RT   SLC12A1 gene.";
RL   Stem Cell Res. 52:102228-102228(2021).
//