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Items: 3

1.

Precise genomic editing of a pathogenic RBM20 mutation rescues dilated cardiomyopathy

(Submitter supplied) Mutations in RNA binding motif protein 20 (RBM20) are a common cause of dilated cardiomyopathy (DCM). Many RBM20 mutations cluster within an arginine/serine rich (RS-rich) domain, resulting in mis-localization of RBM20 to ribonucleoprotein granules within the cytoplasm, abnormal splicing of cardiac genes, and cardiomyocyte dysfunction. We used adenine base editing (ABE) and prime editing to correct pathogenic p.R634Q and p.R636S mutations in the RS-rich domain in human isogenic induced pluripotent stem cell-derived cardiomyocytes. more...
Organism:
Mus musculus; Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platforms:
GPL21697 GPL21626
28 Samples
Download data: TXT
Series
Accession:
GSE210783
ID:
200210783
2.

NextSeq 550 (Homo sapiens)

Platform
Accession:
GPL21697
ID:
100021697
3.

R634Q_heterozygous [TN4]

Organism:
Homo sapiens
Source name:
iPSC-derived cardiomyocytes
Platform:
GPL21697
Series:
GSE210783
Download data: TXT
Sample
Accession:
GSM6437581
ID:
306437581
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