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Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A
- Source :
- Stem Cell Research, Vol 57, Iss, Pp 102577-(2021)
- Publication Year :
- 2021
-
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.
- Subjects :
- Messenger RNA
biology
Cas9
QH301-705.5
Cell- och molekylärbiologi
RNA polymerase II
Cell Biology
General Medicine
Molecular biology
Exon
biology.protein
POLR2A Gene
CRISPR
POLR2A
Biology (General)
Induced pluripotent stem cell
Medical Genetics
Cell and Molecular Biology
Developmental Biology
Medicinsk genetik
Subjects
Details
- ISSN :
- 18767753
- Volume :
- 57
- Database :
- OpenAIRE
- Journal :
- Stem cell research
- Accession number :
- edsair.doi.dedup.....1d2bbc0708390c467b853e6263f16db4