诱导多能干细胞系（UCLi026-A）从携带杂合变异体c.1253G >a的adcy5相关疾病患者中产生；(Arg418Gln页)

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-01-27 DOI:10.1016/j.scr.2025.103669

Sharmin Alhaque , Dimitri Budinger , Barbara Garavaglia , Giovanna Zorzi , Serena Barral , Manju A. Kurian

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引用次数: 0

摘要

腺苷酸环化酶5 （ADCY5）相关疾病是一组罕见的遗传性疾病，常见于儿童。ADCY5的杂合突变导致ADCY5相关的运动障碍，包括一系列致残性多动运动障碍，包括舞蹈病、肌阵挛和/或肌张力障碍。我们从患有常见杂合致病变异的患者的成纤维细胞中产生了诱导多能干细胞系。(p.Arg418Gln)。该品系具有多能性、分化潜力和基因组完整性。该细胞系UCLi026-A （UCL-NG-ADCY5-001）可用于adcy5相关疾病的体外疾病建模，以及开发新的治疗方法。

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Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln)

Adenylyl cyclase 5 (ADCY5)-related diseases are a rare group of genetic disorders that commonly present in childhood. Heterozygous mutations in ADCY5 lead to ADCY5-related dyskinesia, comprising a wide array of disabling hyperkinetic movement disorders including chorea, myoclonus and/or dystonia. We generated an induced pluripotent stem cell line from the fibroblasts of an affected patient with the common heterozygous pathogenic variant, c.1253G > A (p.Arg418Gln). This line was further characterised for pluripotency, differentiation potential and genomic integrity. This cell line, UCLi026-A (UCL-NG-ADCY5-001) can be utilized for in vitro disease modelling of ADCY5-related diseases, as well as for the development of novel therapeutic approaches.

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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.