Generation of gene edited hiPSC from familial Alzheimer's disease patient carrying N141I missense mutation in presenilin 2
| Author | Marei H.E. |
| Author | Althani A. |
| Author | Afifi N. |
| Author | Hasan, Anwarul |
| Author | Caceci T. |
| Author | Pozzoli G. |
| Author | Cenciarelli C. |
| Available date | 2022-05-21T10:18:25Z |
| Publication Date | 2021 |
| Publication Name | Stem Cell Research |
| Resource | Scopus |
| Identifier | http://dx.doi.org/10.1016/j.scr.2021.102552 |
| Abstract | Alzheimer'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. |
| Language | en |
| Publisher | Elsevier B.V. |
| Subject | DNA 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 |
| Type | Article |
| Volume Number | 56 |
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