CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

by Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina
Published 2019-10-01

Generation of induced pluripotent stem cell line (RCMGi001-A) from human skin fibroblasts of a cystic fibrosis patient with p.F508del mutation

by Ekaterina Kondrateva, Elmira Adilgereeva, Elena Amelina, Vyacheslav Tabakov, Anna Demchenko, Kirill Ustinov, Matvey Yasinovsky, Ekaterina Voronina, Alexander Lavrov, Svetlana Smirnikhina
Published 2020-10-01

Generation of two induced pluripotent stem cell lines (RCMGi004-A and -B) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/W1282X mutatio...

by Ekaterina Kondrateva, Anna Demchenko, Yana Slesarenko, Victoria Pozhitnova, Matvey Yasinovsky, Elena Amelina, Vyacheslav Tabakov, Ekaterina Voronina, Alexander Lavrov, Svetlana Smirnikhina
Published 2021-04-01