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...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-09-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125001539 |
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| Summary: | 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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| ISSN: | 1873-5061 |