PMID: 26586530

Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia.

Disease models & mechanisms
K Si-Tayeb, S Idriss, B Champon, A Caillaud, M Pichelin, L Arnaud, P Lemarchand, C Le May, K Zibara, B Cariou
2016-01

3 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55509618-C-T PCSK9 c.310C>T p.Arg104Cys Missense 2/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -