Establishment of PSEN1 mutant induced pluripotent stem cell (iPSC) line from an Alzheimer's disease (AD) female patient
Peripheral blood mononuclear cells (PBMCs) were collected from a clinically characterised, early onset Alzheimer's disease patient, carries a heterozygous, pathogenic single nucleotide variation (SNV) in Presenilin1 (PSEN1) gene (NM_000021.3(PSEN1):c.265G>C; ClinVar ID: 21r027). The PMBCs we...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2016-07-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506116300514 |
| Summary: | Peripheral blood mononuclear cells (PBMCs) were collected from a clinically characterised, early onset Alzheimer's disease patient, carries a heterozygous, pathogenic single nucleotide variation (SNV) in Presenilin1 (PSEN1) gene (NM_000021.3(PSEN1):c.265G>C; ClinVar ID: 21r027). The PMBCs were reprogrammed with the human OSKM transcription factors using the Sendai-virus delivery system. The transgene-free iPSC showed pluripotency verified by immunocytochemistry for pluripotency markers and differentiated spontaneously towards the 3 germ layers in vitro. Furthermore, the iPSC line showed normal karyotype. Our model might offer a good platform to study the pathomechanism of familial AD, to identify early biomarkers and also for drug testing. |
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| ISSN: | 1873-5061 1876-7753 |