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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.
- Source :
-
Stem cell research [Stem Cell Res] 2019 Oct; Vol. 40, pp. 101566. Date of Electronic Publication: 2019 Aug 29. - Publication Year :
- 2019
-
Abstract
- Human iPSC line, IISHDOi006-A, was obtained from fibroblasts of a patient with Dominant Optic Atrophy (DOA) carrying a heterozygous mutation in the gene ACO2: c.1999G>A; p.Glu667Lys. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using a non-integrative methodology that involves the use of Sendai virus.<br /> (Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.)
- Subjects :
- Aconitate Hydratase metabolism
Cell Differentiation
Cell Line cytology
Cellular Reprogramming
Fibroblasts cytology
Fibroblasts metabolism
Humans
Induced Pluripotent Stem Cells cytology
Kruppel-Like Factor 4
Male
Mutation, Missense
Optic Atrophy, Autosomal Dominant metabolism
Optic Atrophy, Autosomal Dominant physiopathology
Point Mutation
Aconitate Hydratase genetics
Cell Line metabolism
Induced Pluripotent Stem Cells metabolism
Optic Atrophy, Autosomal Dominant genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1876-7753
- Volume :
- 40
- Database :
- MEDLINE
- Journal :
- Stem cell research
- Publication Type :
- Academic Journal
- Accession number :
- 31509793
- Full Text :
- https://doi.org/10.1016/j.scr.2019.101566