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

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.

Bibliographic Details
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
id doaj-9f52ccffc5014fddad5ae06f33ddbf73
record_format Article
spelling doaj-9f52ccffc5014fddad5ae06f33ddbf732020-11-24T23:06:25ZengElsevierStem Cell Research1873-50611876-77532017-10-0124C818410.1016/j.scr.2017.08.017Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545ArgFrancisco Zurita-Díaz0Teresa Galera-Monge1Ana Moreno-Izquierdo2Marta Corton3Carmen Ayuso4Rafael Garesse5M. Esther Gallardo6Departamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Madrid, SpainDepartamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Madrid, SpainInstituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, SpainCentro de Investigación Biomédica en Red (CIBERER), Madrid, SpainCentro de Investigación Biomédica en Red (CIBERER), Madrid, SpainDepartamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Madrid, SpainDepartamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Madrid, SpainWe 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.http://www.sciencedirect.com/science/article/pii/S1873506117301794
collection DOAJ
language English
format Article
sources DOAJ
author Francisco Zurita-Díaz
Teresa Galera-Monge
Ana Moreno-Izquierdo
Marta Corton
Carmen Ayuso
Rafael Garesse
M. Esther Gallardo
spellingShingle Francisco Zurita-Díaz
Teresa Galera-Monge
Ana Moreno-Izquierdo
Marta Corton
Carmen Ayuso
Rafael Garesse
M. Esther Gallardo
Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg
Stem Cell Research
author_facet Francisco Zurita-Díaz
Teresa Galera-Monge
Ana Moreno-Izquierdo
Marta Corton
Carmen Ayuso
Rafael Garesse
M. Esther Gallardo
author_sort Francisco Zurita-Díaz
title Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg
title_short Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg
title_full Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg
title_fullStr Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg
title_full_unstemmed Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg
title_sort establishment of a human doa 'plus' ipsc line, iishdoi003-a, with the mutation in the opa1 gene: c.1635c>a; p.ser545arg
publisher Elsevier
series Stem Cell Research
issn 1873-5061
1876-7753
publishDate 2017-10-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506117301794
work_keys_str_mv AT franciscozuritadiaz establishmentofahumandoaplusipsclineiishdoi003awiththemutationintheopa1genec1635capser545arg
AT teresagaleramonge establishmentofahumandoaplusipsclineiishdoi003awiththemutationintheopa1genec1635capser545arg
AT anamorenoizquierdo establishmentofahumandoaplusipsclineiishdoi003awiththemutationintheopa1genec1635capser545arg
AT martacorton establishmentofahumandoaplusipsclineiishdoi003awiththemutationintheopa1genec1635capser545arg
AT carmenayuso establishmentofahumandoaplusipsclineiishdoi003awiththemutationintheopa1genec1635capser545arg
AT rafaelgaresse establishmentofahumandoaplusipsclineiishdoi003awiththemutationintheopa1genec1635capser545arg
AT mesthergallardo establishmentofahumandoaplusipsclineiishdoi003awiththemutationintheopa1genec1635capser545arg
_version_ 1725623087702999040

Similar Items