Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A

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...

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Detaylı Bibliyografya
Asıl Yazarlar: Jens Schuster, Claudia de Guidi, Ambrin Fatima, Maria Sobol, Niklas Dahl
Materyal Türü: Makale
Dil:English
Baskı/Yayın Bilgisi: Elsevier 2021-12-01
Seri Bilgileri:Stem Cell Research
Online Erişim:http://www.sciencedirect.com/science/article/pii/S1873506121004244

Internet

http://www.sciencedirect.com/science/article/pii/S1873506121004244

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