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.

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 patient with GD harboring the c.259C > T (p.Arg87Trp) and c.887G > A (p.Arg296Gln) compound heterozygous variants in GBA1. We generated PNUSCRi003-A hiPSC line from the PBMCs of a patient with GD using non-integrative Sendai virus. The PNUSCRi003-A hiPSCs exhibited embryonic stem cell-like characteristics, showed differentiation properties into the three germ layers, and had a normal karyotype.