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Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys

artículo científico publicado en 2019

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg

artículo científico publicado en 2017

Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease

artículo científico publicado en 2017

Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene

article

Generation of a human control iPSC line with a European mitochondrial haplogroup U background

artículo científico publicado en 2015

Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene.

artículo científico publicado en 2016

Generation of a human iPSC line from a patient with Leigh syndrome.

artículo científico publicado en 2015

Generation of a human iPSC line from a patient with a defect of intergenomic communication.

artículo científico publicado en 2015

Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.

artículo científico publicado en 2015

Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.

artículo científico publicado en 2016

Generation of a human iPSC line, IISHDOi002-A, with a 46, XY/47, XYY mosaicism and belonging to an African mitochondrial haplogroup.

artículo científico publicado en 2018

Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C; p.Trp798Arg

artículo científico publicado en 2020

Pallister-Killian syndrome presenting with a complex congenital heart defect and increased nuchal translucency

artículo científico publicado en 2006

Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome

artículo científico publicado en 2013

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