携带SMC1A基因无意义杂合变异体的两例治疗性癫痫患者的人类iPSC系的产生和特性

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-06-16 DOI:10.1016/j.scr.2025.103752

Marianna Paulis , Maddalena Di Nardo , Lucia Susani , Angela La Grua , Antonio Musio

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引用次数: 0

摘要

不同的SMC1A变异会导致一系列的表型。错义或框架内小缺失与科尼利亚·德·兰格综合征（CdLS）有关，而SMC1A截断变异已在临床表型与CdLS不同的受试者中检测到，这些受试者患有中度至重度智力残疾（ID）和耐药性癫痫。我们从两名耐药癫痫患者身上获得了两条人类iPSC系，其携带无义杂合c.901C >；T （p.E323*）和c.3103C >；T （p.R1035*）在SMC1A基因中的变异。这些细胞系将成为SMC1A变异引起的耐药癫痫的体外疾病建模和药物测试的宝贵资源。

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Generation and characterization of human iPSC lines from two patients with therapy-resistant epilepsy carrying nonsense heterozygous variants in the SMC1A gene

Different SMC1A variants contribute to a spectrum of phenotypes. Missense or small in-frame deletions are associated with Cornelia de Lange syndrome (CdLS) while SMC1A truncation variants have been detected in subjects with a clinical phenotype different from CdLS, with moderate-to-severe intellectual disability (ID) and pharmaco-resistant epilepsy. We generated two human iPSC lines from two patients with pharmaco-resistant epilepsy carrying nonsense heterozygous c.901C > T (p.E323*) and c.3103C > T (p.R1035*) variants in the SMC1A gene. These cell lines will be a valuable resource for in vitro disease modeling and drug testing for pharmaco-resistant epilepsy due to SMC1A variants.

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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.