Nandeesh Bevinahalli Nanjegowda, Maheshwari Baduvandra Chettiyappa, Nimonkar Madhura Milind, Deepha Sekar, Govindaraj Periyasamy, Mehta Bhupesh, Markandeya Yogananda S
Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Department of Biophysics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.
Stem Cell Res. 2025 Mar;83:103654. doi: 10.1016/j.scr.2025.103654. Epub 2025 Jan 5.
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.
磷酸甘油酸激酶-1（PGK1）是身体产生三磷酸腺苷（ATP）所必需的。PGK1基因突变会导致一种罕见的遗传性代谢紊乱，造成PGK1酶缺乏，进而引发溶血性贫血、神经症状和肌肉无力。我们从一名携带PGK1变异体的患者身上分离皮肤穿刺活检获得的成纤维细胞，并使用CytoTune iPS 2.0仙台重编程试剂盒进行重编程，从而生成了诱导多能干细胞（iPSC）。所得到的iPSC具有正常的核型，表达多能性标志物，并在体外分化为三个胚层。iPSC系NIMHi016-A可用于模拟神经肌肉疾病。
