Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A
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. Anal...
| Main Authors: | , , , , |
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| פורמט: | Article |
| שפה: | English |
| יצא לאור: |
Elsevier
2021-12-01
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| סדרה: | Stem Cell Research |
| גישה מקוונת: | http://www.sciencedirect.com/science/article/pii/S1873506121004244 |