Cellosaurus cell line ZZUNEUi029-A (CVCL

Cross-references
Cell line name	ZZUNEUi029-A
Accession	CVCL_C9HS
Resource Identification Initiative	To cite this cell line use: ZZUNEUi029-A (RRID:CVCL_C9HS)
Comments	From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Glu208Lys (c.622G>A) (E167K); ClinVar=VCV000251328; Zygosity=Heterozygous (PubMed=37586167).
Disease	Hyperlipoproteinemia, type IIa (NCIt: C123416) Homozygous familial hypercholesterolemia (ORDO: Orphanet_391665)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	34Y
Category	Induced pluripotent stem cell
Publications	PubMed=37586167; DOI=10.1016/j.scr.2023.103182 Zhu K., Zhao J.-T., Qin F., Chen X.-W., Xu H.-N., Li X.-W., Tao H.-L. An integration-free iPSC line ZZUNEUi029-A derived from peripheral blood mononuclear cells of a patient with familial hypercholesterolemia carrying a mutation in LDLR gene. Stem Cell Res. 71:103182-103182(2023)
Cell line databases/resources	hPSCreg; ZZUNEUi029-A
Biological sample resources	BioSamples; SAMEA113550133
Encyclopedic resources	Wikidata; Q123034009
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3