Cellosaurus cell line CIBi009-A (CVCL

Cross-references
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 site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Leu414Arg (c.1241T>G); ClinVar=VCV000251747; Zygosity=Heterozygous (PubMed=33892292). Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; CIBi009-A
Encyclopedic resources	Wikidata; Q107114676
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6