ID   CMCi002-A
AC   CVCL_A2GD
SY   CMC-GIT-001
DR   BioSamples; SAMEA7807653
DR   hPSCreg; CMCi002-A
DR   Wikidata; Q105506635
RX   PubMed=33370877;
CC   From: The Catholic University of Korea; Seoul; South Korea.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 10912; SLC12A3; Simple; p.Cys16Glnfs*13 (c.46_47delTG); ClinVar=VCV001459093; Zygosity=Heterozygous (PubMed=33370877).
CC   Sequence variation: Mutation; HGNC; 10912; SLC12A3; Simple; p.Ile988Thr (c.2963T>C) (p.Ile979Thr, c.2936T>C); Zygosity=Heterozygous (PubMed=33370877).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84730; Gitelman syndrome
DI   ORDO; Orphanet_358; Gitelman syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33370877; DOI=10.1016/j.scr.2020.102110;
RA   Lim S.W., Shin Y.J., Cui S., Ko E.J., Lee K.I., Lee J.Y., Chung B.H.,
RA   Yang C.W.;
RT   "Generation of a human induced pluripotent stem cell line (CMCi002-A)
RT   from a patient with Gitelman's syndrome.";
RL   Stem Cell Res. 49:102110-102110(2020).
//