Cellosaurus cell line SCVIi129-A (CVCL

Cross-references
Cell line name	SCVIi129-A
Synonyms	SCVI-2454; SCVI 2454; SCVI2454
Accession	CVCL_E4FF
Resource Identification Initiative	To cite this cell line use: SCVIi129-A (RRID:CVCL_E4FF)
Comments	From: Stanford Cardiovascular Institute; Palo Alto; USA. Population: South Asian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Cys652Arg (c.1954T>C); ClinVar=VCV000839687; Zygosity=Heterozygous (PubMed=39096853).
Disease	Marfan syndrome (NCIt: C34807) Marfan syndrome (ORDO: Orphanet_558)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	37Y
Category	Induced pluripotent stem cell
Publications	PubMed=39096853; DOI=10.1016/j.scr.2024.103518 Francesca Vacante, Ravichandra Venkateshappa, Min H. Htet, Christopher D. Yan, Joseph C. Wu; Generation of Marfan syndrome-specific induced pluripotent stem cells harboring FBN1 mutations. Stem Cell Res. 80:103518-103518(2024)
Cell line databases/resources	hPSCreg; SCVIi129-A
Biological sample resources	BioSamples; SAMEA115829496
Entry history
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1