人类诱导多能干细胞系NIMHi016-A，从携带PGK1/p的神经肌肉疾病患者的成纤维细胞中建立。Asn5Lys变体。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Stem cell research Pub Date : 2025-01-05 DOI:10.1016/j.scr.2025.103654

Bevinahalli Nanjegowda Nandeesh , Baduvandra Chettiyappa Maheshwari , Madhura Milind Nimonkar , Sekar Deepha , Periyasamy Govindaraj , Bhupesh Mehta , Yogananda S. Markandeya

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引用次数: 0

摘要

PGK1（磷酸甘油酸激酶-1）是体内ATP生成所必需的。PGK1基因突变导致一种罕见的遗传性代谢紊乱，导致PGK1酶缺乏，导致溶血性贫血、神经系统症状和肌肉无力。我们通过从皮肤穿刺活检中分离成纤维细胞并使用CytoTune iPS 2.0仙台重编程试剂盒进行重编程，从携带PGK1变异的患者身上获得了诱导多能干细胞（iPSCs）。获得的iPSCs具有正常的核型，表达多能性标记，并在体外分化为三种胚层。iPSC系NIMHi016-A可用于模拟神经肌肉疾病。

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

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.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.