Cellosaurus cell line SCVIi109-A (CVCL

Cross-references
Cell line name	SCVIi109-A
Synonyms	SCVI-3020; SCVI 3020; SCVI3020
Accession	CVCL_D6LR
Resource Identification Initiative	To cite this cell line use: SCVIi109-A (RRID:CVCL_D6LR)
Comments	From: Stanford Cardiovascular Institute; Palo Alto; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6547; LDLR; Simple; c.313+1G>A; ClinVar=VCV000003736; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=38852422).
Disease	Hyperlipoproteinemia, type IIa (NCIt: C123416)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	76Y
Category	Induced pluripotent stem cell
Publications	PubMed=38852422; DOI=10.1016/j.scr.2024.103463; PMCID=PMC11532021 Gao J.-S., Li J., Xu L.-Y., Yan C.D., Knowles J.W., Wu J.C. Generation of two familial hypercholesterolemia patient-specific induced pluripotent stem cell lines harboring heterozygous mutations in the LDLR gene. Stem Cell Res. 78:103463-103463(2024)
Cell line databases/resources	hPSCreg; SCVIi109-A
Biological sample resources	BioSamples; SAMEA115395166
Encyclopedic resources	Wikidata; Q127384241
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3