ID   IMAGINi051-A
AC   CVCL_F0RE
SY   IMAGINE051
DR   BioSamples; SAMEA117851156
DR   hPSCreg; IMAGINi051-A
RX   PubMed=40819571;
CC   From: Imagine Institute; Paris; France.
CC   Sequence variation: Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Gly269Ser (c.805G>A); ClinVar=VCV000003898; Zygosity=Heterozygous (PubMed=40819571).
CC   Sequence variation: Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Phe305del (c.912CTT[1]) (c.915_917delTTC); ClinVar=VCV000188812; Zygosity=Heterozygous (PubMed=40819571).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85184; Tay-Sachs disease
DI   ORDO; Orphanet_845; Tay-Sachs disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   35-53Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//
RX   PubMed=40819571; DOI=10.1016/j.scr.2025.103801;
RA   Fernandez-Eulate, Gorka
RA   Banal, Celine
RA   Renault, Solene
RA   Lefort, Nathalie
RA   Nadjar, Yann
RT   "Generation of three human induced pluripotent stem cell (hiPSC) lines
RT   from patients with late-onset Tay-Sachs disease (HEXA-related
RT   adult-onset GM2-gangliosidosis).";
RL   Stem Cell Res. 87:103801-103801(2025).
//