Article
Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells
2023-08-30
Abstract excerpt
Angelman Syndrome (AS) and Prader-Willi Syndrome (PWS), two distinct neurodevelopmental disorders, result from loss of expression from imprinted genes in the chromosome 15q11-13 locus most commonly caused by a megabase-scale deletion on either the maternal or paternal allele, respectively. Each occurs at an approximate incidence of 1/15,000 to 1/30,000 live births and has a range of debilitating phenotypes. Patien...
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Identifiers and source
- Literature Corpus work
- bcf50c8f-d4fb-5e75-9537-d1c37726940a
- DOI
- 10.1101/2023.08.30.555563
