ID   ZZUNEUi029-A
AC   CVCL_C9HS
DR   BioSamples; SAMEA113550133
DR   hPSCreg; ZZUNEUi029-A
DR   Wikidata; Q123034009
RX   PubMed=37586167;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6547; LDLR; Simple; p.Glu208Lys (c.622G>A) (E167K); ClinVar=VCV000251328; Zygosity=Heterozygous (PubMed=37586167).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123416; Hyperlipoproteinemia, type IIa
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37586167; DOI=10.1016/j.scr.2023.103182;
RA   Zhu K., Zhao J.-T., Qin F., Chen X.-W., Xu H.-N., Li X.-W., Tao H.-L.;
RT   "An integration-free iPSC line ZZUNEUi029-A derived from peripheral
RT   blood mononuclear cells of a patient with familial
RT   hypercholesterolemia carrying a mutation in LDLR gene.";
RL   Stem Cell Res. 71:103182-103182(2023).
//