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Cellosaurus ZZUNEUi029-A (CVCL_C9HS)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; ZZUNEUi029-A
Biological sample resources BioSamples; SAMEA113550133
Encyclopedic resources Wikidata; Q123034009
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2