ID   ZZUNEUi015-A
AC   CVCL_A4ZQ
DR   hPSCreg; ZZUNEUi015-A
DR   Wikidata; Q107117583
RX   PubMed=33607470;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 17574; ALPK3; Simple; p.Thr338lle (c.1013T>C); ClinVar=VCV000389853; Zygosity=Heterozygous (PubMed=33607470).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C179054; Familial hypertrophic cardiomyopathy type 27
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33607470; DOI=10.1016/j.scr.2021.102247;
RA   Tian X.-X., Fu W.-R., Guo G.-L., Huang S.-J., Dong Y.-M., Li X.-W.,
RA   Dong J.-Z., Zhao X.-Y., Zhang Y.-Z.;
RT   "Generation of a human iPSC line ZZUNEUi015-A from a patient with
RT   hypertrophic cardiomyopathy caused by mutation in ALPK3.";
RL   Stem Cell Res. 52:102247-102247(2021).
//