Generation of a human induced pluripotent stem cell line (PNUYHi004-A) from a patient with hereditary spastic paraplegia type 46 (SPG46) carrying compound heterozygous GBA2 variants.

Abstract

SPG46 is a rare autosomal recessive form of hereditary spastic paraplegia (HSP) caused by biallelic pathogenic variants in GBA2, encoding the non-lysosomal glucosylceramidase. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 40-year-old Korean patient with adult-onset complicated HSP carrying novel compound heterozygous GBA2 variants (NM_020944.3: c.2059_2072del, p.Tyr687ValfsTer23; c.2621C > T, p.Ser874Leu), using non-integrating Sendai virus vectors. The iPSC line showed a normal karyotype, expressed markers of undifferentiated hPSC, and differentiated into all three germ layers. This line provides a resource for studying GBA2-associated SPG46 and sphingolipid-related neurodegeneration.