{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["2023"],"submitter":["Mavrommatis L"],"pubmed_abstract":["Large numbers of Calpain 3 (CAPN3) mutations cause recessive forms of limb-girdle muscular dystrophy (LGMD2A/LGMDR1) with selective atrophy of the proximal limb muscles. We have generated induced pluripotent stem cells (iPSC) from a patient with two mutations in exon 3 and exon 4 at the calpain 3 locus (W130C, 550delA). Two different strategies to rescue these mutations are devised: (i) on the level of LGMD2A-iPSC, we combined CRISPR/Cas9 genome targeting with a FACS and Tet transactivator-based biallelic selection strategy, which resulted in a new functional chimeric exon 3-4 without the two CAPN3 mutations. (ii) On the level of LGMD2A-iPSC-derived CD82+/Pax7+ myogenic progenitor cells, we demonstrate CRISPR/Cas9 mediated rescue of the highly prevalent exon 4 CAPN3 mutation. The first str"],"journal":["Stem cells international"],"pagination":["9246825"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10653971"],"repository":["biostudies-literature"],"pubmed_title":["CRISPR/Cas9 Genome Editing in LGMD2A/R1 Patient-Derived Induced Pluripotent Stem and Skeletal Muscle Progenitor Cells."],"pmcid":["PMC10653971"],"pubmed_authors":["Brand-Saberi B","Kindler U","Jeong HW","Bohme P","Dietz J","Zaehres H","Vorgerd M","Mavrommatis L","Zaben A","Kienitz MC"],"additional_accession":[]},"is_claimable":false,"name":"CRISPR/Cas9 Genome Editing in LGMD2A/R1 Patient-Derived Induced Pluripotent Stem and Skeletal Muscle Progenitor Cells.","description":"Large numbers of Calpain 3 (CAPN3) mutations cause recessive forms of limb-girdle muscular dystrophy (LGMD2A/LGMDR1) with selective atrophy of the proximal limb muscles. We have generated induced pluripotent stem cells (iPSC) from a patient with two mutations in exon 3 and exon 4 at the calpain 3 locus (W130C, 550delA). Two different strategies to rescue these mutations are devised: (i) on the level of LGMD2A-iPSC, we combined CRISPR/Cas9 genome targeting with a FACS and Tet transactivator-based biallelic selection strategy, which resulted in a new functional chimeric exon 3-4 without the two CAPN3 mutations. (ii) On the level of LGMD2A-iPSC-derived CD82+/Pax7+ myogenic progenitor cells, we demonstrate CRISPR/Cas9 mediated rescue of the highly prevalent exon 4 CAPN3 mutation. The first str","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2025-04-21T23:13:02.063Z","creation":"2025-04-05T19:00:57.719Z"},"accession":"S-EPMC10653971","cross_references":{"pubmed":["38020204"],"doi":["10.1155/2023/9246825"]}}