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

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: Karina Goluba, Vadims Parfejevs, Anastasija Neimane, Anastasija Tvoronovica, Baiba Lace, Mehrnaz Ghazvini, Inna Inashkina, Una Riekstina
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506125001539
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