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

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

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 involv...

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Veröffentlicht in:Stem cell research 2019-10, Vol.40, p.101566-101566, Article 101566
Hauptverfasser: Cerrada, Victoria, García-López, Marta, Moreno-Izquierdo, Ana, Villaverde, Cristina, Zurita, Olga, Martin-Merida, Maria Inmaculada, Arenas, Joaquín, Ayuso, Carmen, Gallardo, M. Esther
Format: Artikel
Sprache:eng
Schlagworte:
Aconitate Hydratase - genetics
Aconitate Hydratase - metabolism
Cell Differentiation
Cell Line - cytology
Cell Line - metabolism
Cellular Reprogramming
Fibroblasts - cytology
Fibroblasts - metabolism
Humans
Induced Pluripotent Stem Cells - cytology
Induced Pluripotent Stem Cells - metabolism
Male
Mutation, Missense
Optic Atrophy, Autosomal Dominant - genetics
Optic Atrophy, Autosomal Dominant - metabolism
Optic Atrophy, Autosomal Dominant - physiopathology
Point Mutation
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Zusammenfassung: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2019.101566