Cellosaurus cell line SCVIi108-A (CVCL

Cross-references
Cell line name	SCVIi108-A
Synonyms	SCVI-2767; SCVI 2767; SCVI2767
Accession	CVCL_D6LQ
Resource Identification Initiative	To cite this cell line use: SCVIi108-A (RRID:CVCL_D6LQ)
Comments	From: Stanford Cardiovascular Institute; Palo Alto; USA. Population: Native South American. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6547; LDLR; Simple; p.His211Tyr (c.631C>T); ClinVar=VCV000251335; Zygosity=Heterozygous (PubMed=38852422).
Disease	Hyperlipoproteinemia, type IIa (NCIt: C123416)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	54Y
Category	Induced pluripotent stem cell
Publications	PubMed=38852422; DOI=10.1016/j.scr.2024.103463; PMCID=PMC11532021 Jing-Shan Gao, Juana Li, Ling-Yun Xu, Christopher D. Yan, Joshua Wiley Knowles, Joseph C. Wu; 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; SCVIi108-A
Biological sample resources	BioSamples; SAMEA115395164
Encyclopedic resources	Wikidata; Q127384239
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3