Ontology highlight
ABSTRACT:
SUBMITTER: Selvaraj S
PROVIDER: S-EPMC6904833 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Selvaraj Sridhar S Dhoke Neha R NR Kiley James J Mateos-Aierdi Alba Judith AJ Tungtur Sudheer S Mondragon-Gonzalez Ricardo R Killeen Grace G Oliveira Vanessa K P VKP López de Munain Adolfo A Perlingeiro Rita C R RCR
Molecular therapy : the journal of the American Society of Gene Therapy 20190828 12
Limb girdle muscular dystrophy type 2A (LGMD2A), caused by mutations in the Calpain 3 (CAPN3) gene, is an incurable autosomal recessive disorder that results in muscle wasting and loss of ambulation. To test the feasibility of an autologous induced pluripotent stem cell (iPSC)-based therapy for LGMD2A, here we applied CRISPR-Cas9-mediated genome editing to iPSCs from three LGMD2A patients to enable correction of mutations in the CAPN3 gene. Using a gene knockin approach, we genome edited iPSCs c ...[more]