ID   GRCHJUi001-C
AC   CVCL_D6N5
SY   LYJ-iPS-C6
RX   PubMed=38341987;
CC   From: Guangzhou Red Cross Hospital of Jinan University; Guangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Ser209Pro (c.625T>C); ClinVar=VCV000067094; Zygosity=Heterozygous (PubMed=38341987).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell of kidney; CL=CL_0002518.
DI   NCIt; C50466; Atrial fibrillation
DI   ORDO; Orphanet_334; Familial atrial fibrillation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D6N3 ! GRCHJUi001-A
OI   CVCL_D6N4 ! GRCHJUi001-B
OI   CVCL_D6N6 ! GRCHJUi001-D
SX   Male
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38341987; DOI=10.1016/j.scr.2024.103336;
RA   Cen Y.-G., Zhou T.-C., Chen S.-S., Deng Z.-Y., Wang J.-S., Ma N.,
RA   Zhang S.-H.;
RT   "Generation of an induced pluripotent stem cell line from patient with
RT   atrial fibrillation with KCNQ1 p.Ser209Pro mutation.";
RL   Stem Cell Res. 76:103336-103336(2024).
//