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AuthorMarei H.E.
AuthorAlthani A.
AuthorAfifi N.
AuthorHasan, Anwarul
AuthorCaceci T.
AuthorPozzoli G.
AuthorCenciarelli C.
Available date2022-05-21T10:18:25Z
Publication Date2021
Publication NameStem Cell Research
ResourceScopus
Identifierhttp://dx.doi.org/10.1016/j.scr.2021.102552
URIhttp://hdl.handle.net/10576/31257
AbstractAlzheimer's disease (AD) is the major cause of dementia worldwide. Early-onset familial AD accounts for about 0.5% of all AD and is caused by single major gene mutations and autosomal dominant inheritance. An N141I missense mutation is associated with a significant increase in basal cell death and apoptosis. In this work we generated hiPSC from skin fibroblasts obtained from an AD patient carrying a N141I missense mutation in PSEN2. The generated iPSC colonies grew and were characterized by pluripotency marker staining; the N141I missense mutation was corrected using genome editing technology.
Languageen
PublisherElsevier B.V.
SubjectDNA fragment
kruppel like factor 4
Myc protein
octamer transcription factor 4
presenilin 2
transcription factor NANOG
transcription factor Sox2
presenilin 1
presenilin 2
aged
Alzheimer disease
Article
case report
cell differentiation
chromosome loss
chromosome number
clinical article
controlled study
cryopreservation
dementia
female
fibroblast
gene editing
gene frequency
human
human cell
immunocytochemistry
induced pluripotent stem cell
metaphase
missense mutation
quality control
real time polymerase chain reaction
short tandem repeat
skin fibroblast
very elderly
gene editing
genetics
missense mutation
mutation
Alzheimer Disease
Gene Editing
Humans
Induced Pluripotent Stem Cells
Mutation
Mutation, Missense
Presenilin-1
Presenilin-2
TitleGeneration of gene edited hiPSC from familial Alzheimer's disease patient carrying N141I missense mutation in presenilin 2
TypeArticle
Volume Number56
dc.accessType Abstract Only


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