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Cellosaurus CIBi009-A (CVCL_A7JG)

[Text version]

Cell line name CIBi009-A
Synonyms iPSD0050; PBMC20191212-01 SeV C4
Accession CVCL_A7JG
Resource Identification Initiative To cite this cell line use: CIBi009-A (RRID:CVCL_A7JG)
Comments From: Cell Inspire Biotechnology; Shenzhen; China.
Population: Chinese; Han.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 6547; LDLR; Simple; p.Leu414Arg (c.1241T>G); ClinVar=VCV000251747; Zygosity=Heterozygous (PubMed=33892292).
Mutation; HGNC; 603; APOB; Simple; p.Asp540Tyr (c.1618G>T); ClinVar=VCV000925431; Zygosity=Heterozygous (PubMed=33892292).
Disease Hypercholesterolemia, familial, 2 (NCIt: C176014)
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 31Y
Category Induced pluripotent stem cell
Publications

PubMed=33892292; DOI=10.1016/j.scr.2021.102347
Ge W.-K., Song Y.-Z., Chu M., Liu Y.-Q., Yang B., Wang K.-J., Yu B.-R., Song C.-Y., Wang Y., Yang J.-Y.
Generation of a human iPSC line CIBi009-A from a patient with familial hypercholesterolemia carrying variants of LDLR c.T1241G and APOB c.G1618T.
Stem Cell Res. 53:102347-102347(2021)

Cross-references
Cell line databases/resources hPSCreg; CIBi009-A
Other Wikidata; Q107114676
Entry history
Entry creation20-May-2021
Last entry update23-Sep-2021
Version number2