3例LGMD R1患者携带CAPN3亚型内含子变异c.1746-20C > G的诱导多能干细胞系的生成

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-08-13 DOI:10.1016/j.scr.2025.103803

Karina Goluba , Vadims Parfejevs , Anastasija Neimane , Anastasija Tvoronovica , Baiba Lace , Mehrnaz Ghazvini , Inna Inashkina , Una Riekstina

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引用次数: 0

摘要

calpain病是一种进行性常染色体隐性肢体肌萎缩症（LGMD R1），由calpain 3 （CAPN3）基因变异引起。我们已经证明，在拉脱维亚常见的亚形态内含子突变c.1746-20C > G （MAF 0.237）会导致与c.643结合的CAPN3产物的错误剪接T >； C基因的转位变异导致LGMD临床症状的发展。我们的项目旨在产生calpain病患者来源的诱导多能干细胞（iPSCs），并创建一个概括独特的CAPN3变异的疾病模型。

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Generation of induced pluripotent stem cell lines from three LGMD R1 patients carrying CAPN3 hypomorphic intronic variant c.1746-20C > G

Calpainopathy is a progressive autosomal recessive limb girdle muscular dystrophy (LGMD R1) caused by variants in the calpain 3 (CAPN3) gene. We have shown that the hypomorphic intronic mutation c.1746-20C > G, which is common in Latvia (MAF 0.237), causes incorrect splicing of the CAPN3 products that in combination with c.643 T > C variant in trans position leads to the development of LGMD clinical symptoms. Our project aims to generate calpainopathy patient-derived induced pluripotent stem cells (iPSCs) and create a disease model that recapitulates unique CAPN3 variant.

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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.