Cellosaurus cell line BFVSBi004-A (CVCL

Cross-references
Cell line name	BFVSBi004-A
Synonyms	VS-19
Accession	CVCL_E4FL
Resource Identification Initiative	To cite this cell line use: BFVSBi004-A (RRID:CVCL_E4FL)
Comments	From: Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine; Stanford; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Asn76Asp (c.226A>G); ClinVar=VCV000519601; Zygosity=Heterozygous (PubMed=38944978).
Disease	Ehlers-Danlos syndrome, type IV (NCIt: C125699) Vascular Ehlers-Danlos syndrome (ORDO: Orphanet_286)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	53Y
Category	Induced pluripotent stem cell
Publications	PubMed=38944978; DOI=10.1016/j.scr.2024.103485; PMCID=PMC11315230 Manhas A., Tripathi D., Noishiki C.A., Wu D., Liu L., Sallam K., Lee J.T., Fukaya E., Sayed N. Generation of two iPSC lines from vascular Ehlers-Danlos syndrome (vEDS) patients carrying a missense mutation in COL3A1 gene. Stem Cell Res. 79:103485-103485(2024)
Cell line databases/resources	hPSCreg; BFVSBi004-A
Biological sample resources	BioSamples; SAMEA115544329
Entry history
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1