A human induced pluripotent stem cell line, NIMHi016-A, established from fibroblasts of a neuromuscular disease patient carrying PGK1/p. Asn5Lys variant

Abstract

PGK1 (phosphoglycerate kinase-1) is required for ATP production in the body. Mutation in the PGK1 gene causes a rare, inherited metabolic disorder causing deficiency of enzyme PGK1, leading to hemolytic anemia, neurological symptoms, and muscle weakness. We generated induced pluripotent stem cells (iPSCs) from a patient carrying a PGK1 variant by isolating fibroblasts from skin punch biopsy and reprogramming using CytoTune iPS 2.0 Sendai reprogramming kit. The resulting iPSCs had normal karyotype, expressed pluripotent markers, and differentiated into three germ layers in vitro. The iPSC line NIMHi016-A can be used to model neuromuscular disorders.