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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

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dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.departmentGraduate School of Health Sciences
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorBörklü Yücel, Esra
dc.contributor.kuauthorDemir, Ata Berk
dc.contributor.kuauthorKarakuş, Mehmet Batuhan
dc.contributor.kuauthorKelekçi, Simge
dc.contributor.kuauthorÖnder, Tamer Tevfik
dc.contributor.kuauthorÖzçimen, Burcu
dc.contributor.kuauthorUğurlu Çimen, Deniz
dc.contributor.kuauthorYıldız, Abdullah Burak
dc.contributor.schoolcollegeinstituteGRADUATE SCHOOL OF HEALTH SCIENCES
dc.contributor.schoolcollegeinstituteKUH (KOÇ UNIVERSITY HOSPITAL)
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T13:56:20Z
dc.date.issued2021
dc.description.abstractFriedreich'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.
dc.description.fulltextYES
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.openaccessYES
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.sponsorshipN/A
dc.description.versionPublisher version
dc.description.volume54
dc.identifier.doi10.1016/j.scr.2021.102438
dc.identifier.eissn1876-7753
dc.identifier.embargoNO
dc.identifier.filenameinventorynoIR02986
dc.identifier.issn1873-5061
dc.identifier.quartileN/A
dc.identifier.scopus2-s2.0-85109116821
dc.identifier.urihttps://hdl.handle.net/20.500.14288/4058
dc.identifier.wos674602700004
dc.keywordsInduced Pluripotent Stem Cells (iPCs)
dc.language.isoeng
dc.publisherElsevier
dc.relation.grantnoNA
dc.relation.ispartofStem Cell Research
dc.relation.urihttp://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/9634
dc.subjectCell biology
dc.subjectBiotechnology
dc.subjectApplied microbiology
dc.titleGeneration of transgene-free iPSC lines from three patients with Friedreich's ataxia (FRDA) carrying GAA triplet expansions in the first intron of FXN gene
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.kuauthorKelekçi, Simge
local.contributor.kuauthorUğurlu Çimen, Deniz
local.contributor.kuauthorDemir, Ata Berk
local.contributor.kuauthorÖzçimen, Burcu
local.contributor.kuauthorYıldız, Abdullah Burak
local.contributor.kuauthorKarakuş, Mehmet Batuhan
local.contributor.kuauthorBörklü Yücel, Esra
local.contributor.kuauthorÖnder, Tamer Tevfik
local.publication.orgunit1GRADUATE SCHOOL OF HEALTH SCIENCES
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit1KUH (KOÇ UNIVERSITY HOSPITAL)
local.publication.orgunit2KUH (Koç University Hospital)
local.publication.orgunit2School of Medicine
local.publication.orgunit2Graduate School of Health Sciences
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