ID   CHZJUi001-A
AC   CVCL_E3T7
SY   CSJHFiPSC
DR   BioSamples; SAMEA116044106
DR   hPSCreg; CHZJUi001-A
RX   PubMed=39577308;
CC   From: Children's Hospital of Zhejiang University School of Medicine; Hangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:6742; LZTR1; Simple; p.Arg362Ter (c.1084C>T); ClinVar=VCV000289969; Zygosity=Heterozygous (PubMed=39577308).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84673; Dilated cardiomyopathy
DI   ORDO; Orphanet_217604; Dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39577308; DOI=10.1016/j.scr.2024.103616;
RA   Ruan J.-H., Wu M.-Q., Xiang J.-K., Hui X.-R., Yang L.-J., Lin R.,
RA   Xu W.-Z., Shu Q.;
RT   "Generation of a human induced pluripotent stem cell line from a
RT   female patient carrying LZTR1 gene mutation.";
RL   Stem Cell Res. 81:103616-103616(2024).
//