Generation of transgene-free iPSC lines from three patients with Friedreich's ataxia (FRDA) carrying GAA triplet expansions in the first intron of FXN gene
| Autor: | Tamer T. Onder, Simge Kelekçi, Abdullah Burak Yıldız, Mehmet Batuhan Karakuş, Ata Berk Demir, Burcu Özçimen, Esra Börklü Yücel, Deniz Uğurlu-Çimen |
|---|---|
| Přispěvatelé: | Kelekçi, Simge, Çimen, Deniz Uğurlu, Demir, Ata Berk, Özçimen, Burcu, Yıldız, Abdullah Burak, Karakuş, Mehmet Batuhan, Börklü Yücel, Esra, Önder, Tamer Tevfik (ORCID 0000-0002-2372-9158 & YÖK ID 42946), Koç University Hospital, Graduate School of Health Sciences, School of Medicine |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Ataxia QH301-705.5 Induced Pluripotent Stem Cells Germ layer Biology 03 medical and health sciences 0302 clinical medicine In vivo Iron-Binding Proteins medicine Humans Biology (General) Induced pluripotent stem cell Gene Cell biology Biotechnology Applied microbiology Intron Karyotype Cell Biology General Medicine medicine.disease Molecular biology Introns 030104 developmental biology Induced Pluripotent Stem Cells (iPCs) Friedreich Ataxia Teratoma medicine.symptom Trinucleotide Repeat Expansion 030217 neurology & neurosurgery Developmental Biology |
| Zdroj: | Stem Cell Research Stem Cell Research, Vol 54, Iss, Pp 102438-(2021) |
| ISSN: | 1876-7753 |
| Popis: | Friedreich's ataxia (FRDA) is a rare neurodegenerative disorder which is caused by triplet repeat expansion (GAA) in the first intron of FXN gene. In this present study, we generated induced pluripotent stem cells (iPSC) lines from fibroblasts of three unrelated FRDA patients using integration-free episomal vectors. All iPSC lines express the pluripotency markers such as OCT4 and SSEA4, display normal karyotypes and can differentiate into all three germ layers via in vivo teratoma formation assay. NA |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|