Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg
We have generated a human iPSC line IISHDOi003-A from fibroblasts of a patient with a dominant optic atrophy ‘plus’ phenotype, harbouring a heterozygous mutation, c.1635C>A; p.Ser545Arg, in the OPA1 gene. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using Sendai virus.
Main Authors: | Francisco Zurita-Díaz, Teresa Galera-Monge, Ana Moreno-Izquierdo, Marta Corton, Carmen Ayuso, Rafael Garesse, M. Esther Gallardo |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2017-10-01
|
Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506117301794 |
Similar Items
-
Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys
by: Victoria Cerrada, et al.
Published: (2019-10-01) -
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
by: Francisco Zurita-Díaz, et al.
Published: (2018-08-01) -
Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease
by: María del Carmen Ortuño-Costela, et al.
Published: (2017-08-01) -
Generation of a human iPSC line from a patient with an optic atrophy ‘plus’ phenotype due to a mutation in the OPA1 gene
by: Teresa Galera-Monge, et al.
Published: (2016-05-01) -
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
by: Victoria Cerrada, et al.
Published: (2020-12-01)