Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON): Stem Cell Research

C. Peron, R. Mauceri, T. Cabassi, A. Segnali, A. Maresca, A. Iannielli, A. Rizzo, F.L. Sciacca, V. Broccoli, V. Carelli, V. Tiranti

Research output: Contribution to journalArticlepeer-review

Abstract

Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited disorder caused by homoplasmic mutations of mitochondrial DNA (mtDNA). LHON is characterized by the selective degeneration of the retinal ganglion cells (RGC). Almost all LHON maternal lineages are homoplasmic mutant (100% mtDNA copies are mutant) for one of three frequent mtDNA mutations now found in over 90% of patients worldwide (m.11778G > A/MT-ND4, m.3460G > A/MT-ND1, m.14484 T > C/MT-ND6). Human induced pluripotent stem cells (hiPSCs) were generated from a patient carrying the homoplasmic m.3460G > A/MT-ND1 mutation using the Sendai virus non-integrating virus. © 2020 The Authors
Original languageEnglish
JournalStem Cell Res.
Volume48
DOIs
Publication statusPublished - 2020

Keywords

  • alkaline phosphatase
  • hepatocyte nuclear factor 3beta
  • kruppel like factor 4
  • mitochondrial DNA
  • mt nd1 protein
  • Myc protein
  • octamer transcription factor 4
  • organic cation transporter 3
  • protein
  • rex1 protein
  • tra1 60 protein
  • transcription factor MSX1
  • transcription factor NANOG
  • transcription factor PAX6
  • transcription factor Sox2
  • unclassified drug
  • adult
  • Article
  • calorimetry
  • case report
  • clinical article
  • clinical assessment
  • comparative genomic hybridization
  • disease association
  • embryoid body
  • female
  • gene mutation
  • germ layer
  • human
  • human cell
  • immunofluorescence
  • induced pluripotent stem cell
  • Leber hereditary optic neuropathy
  • molecular cloning
  • priority journal
  • protein expression
  • real time polymerase chain reaction
  • Sendai virus
  • skin fibroblast
  • young adult

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