Cellosaurus cell line IMAGINi051-A (CVCL

Cross-references
Cell line name	IMAGINi051-A
Synonyms	IMAGINE051
Accession	CVCL_F0RE
Resource Identification Initiative	To cite this cell line use: IMAGINi051-A (RRID:CVCL_F0RE)
Comments	From: Imagine Institute; Paris; France. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Gly269Ser (c.805G>A); ClinVar=VCV000003898; Zygosity=Heterozygous (PubMed=40819571). Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Phe305del (c.912CTT[1]) (c.915_917delTTC); ClinVar=VCV000188812; Zygosity=Heterozygous (PubMed=40819571).
Disease	Tay-Sachs disease (NCIt: C85184) Tay-Sachs disease (ORDO: Orphanet_845)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	35-53Y
Category	Induced pluripotent stem cell
Publications	PubMed=40819571; DOI=10.1016/j.scr.2025.103801 Gorka Fernandez-Eulate, Celine Banal, Solene Renault, Nathalie Lefort, Yann Nadjar; Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with late-onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis). Stem Cell Res. 87:103801-103801(2025)
Cell line databases/resources	hPSCreg; IMAGINi051-A
Biological sample resources	BioSamples; SAMEA117851156
Entry history
Entry creation	27-Nov-2025
Last entry update	27-Nov-2025
Version number	1