{"entity": "publication", "iuid": "94298ff3c7b14add8261a2bc6058595a", "timestamp": "2026-09-01T08:31:46.532Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/94298ff3c7b14add8261a2bc6058595a.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/94298ff3c7b14add8261a2bc6058595a"}}, "title": "Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A.", "authors": [{"family": "Schuster", "given": "Jens", "initials": "J"}, {"family": "de Guidi", "given": "Claudia", "initials": "C"}, {"family": "Fatima", "given": "Ambrin", "initials": "A"}, {"family": "Sobol", "given": "Maria", "initials": "M"}, {"family": "Dahl", "given": "Niklas", "initials": "N"}], "type": "journal article", "published": "2021-12-00", "journal": {"title": "Stem Cell Res", "issn": "1876-7753", "volume": "57", "pages": "102577", "issn-l": "1873-5061"}, "abstract": "Heterozygous variants in POLR2A, encoding the largest subunit of RNA polymerase II, cause severe neurodevelopmental and multisystem abnormalities in humans. Using CRISPR/Cas9 we generated the human iPSC line KICRi002A-5 with a heterozygous truncating 4 bp insertion in exon 5 of the POLR2A gene. Analysis using qRT-PCR confirmed reduced POLR2A mRNA in KICRi002A-5 vs. the isogenic WT iPSC line. The edited iPSC line expressed pluripotency markers and exhibited differentiation capacity into the three germ layers. Assessment of genomic integrity revealed a normal karyotype and OFF-target editing was excluded. The iPSC line KICRi002A-5 provides a useful resource to study mechanisms underlying developmental defects caused by RBP1 insufficiency.", "doi": "10.1016/j.scr.2021.102577", "pmid": "34688129", "labels": [], "xrefs": [{"db": "pii", "key": "S1873-5061(21)00424-4"}], "notes": [], "created": "2026-08-21T11:28:50.490Z", "modified": "2026-08-21T11:28:50.519Z"}