Establishment of a human induced pluripotent stem cell line (PNUSCRi003-A) from a patient with Gaucher disease carrying compound heterozygous p.Arg87Trp and p.Arg296Gln variants in the GBA1 gene
{{output}}
Gaucher disease (GD) is a rare inherited metabolic disease wherein deficiency of glucocerebrosidase (GCase) in the GBA1 gene, resulting in the accumulation of harmful quantities of lipids. Here, we obtained peripheral blood mononuclear cells (PBMCs) from a pat... ...
