PMID: 34739847

PCSK9 regulates the NODAL signaling pathway and cellular proliferation in hiPSCs.

Stem cell reports
Roudaut, Meryl M, Idriss, Salam S, Caillaud, Amandine A, Girardeau, Aurore A, Rimbert, Antoine A, Champon, Benoite B, David, Amandine A, Lévêque, Antoine A, Arnaud, Lucie L, Pichelin, Matthieu M, Prieur, Xavier X, Prat, Annik A, Seidah, Nabil G NG, Zibara, Kazem K, Le May, Cedric C, Cariou, Bertrand B, Si-Tayeb, Karim K
2021-10-26

5 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509649-T-C PCSK9 c.341T>C p.V114A Missense 2/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55509618-C-T PCSK9 c.310C>T p.R104C Missense 2/12 -
1-55524180-CT-TA PCSK9 c.1363_1364delCTinsTA p.L455* Nonsense 9/12 -
3-184101353-CT-TA CHRD c.1363_1364delCTinsTA p.L455* Nonsense 12/23 -