Publicação
Generation of two pairs of induced pluripotent stem cells from Angelman syndrome patients with class I 15q11.2-q13.1 deletions and their unaffected familial controls
| datacite.subject.fos | Ciências Médicas::Ciências da Saúde | |
| datacite.subject.sdg | 03:Saúde de Qualidade | |
| dc.contributor.author | Santos, João Camões dos | |
| dc.contributor.author | Mateus, Francisca Cazaux | |
| dc.contributor.author | Arez, Maria | |
| dc.contributor.author | Bekman, Evguenia P. | |
| dc.contributor.author | Rocha, Simão T. da | |
| dc.date.accessioned | 2026-05-08T14:21:31Z | |
| dc.date.available | 2026-05-08T14:21:31Z | |
| dc.date.issued | 2025-08 | |
| dc.description.abstract | Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe developmental delay, speech impairment, ataxia and happy demeanor. AS is caused by loss-of-function of maternal UBE3A in neurons due to (epi)genetic abnormalities. Here, we report two new induced pluripotent stem cell (iPSC) lines from male and female patients carrying ∼ 6 Mb deletions in chr15q11.2-q13.1, together with familial control iPSC lines. All lines express pluripotent stem cell markers, demonstrate trilineage differentiation, and maintain genetic and epigenetic integrity at the locus of interest. These iPSCs provide a platform to model class I deletions, the most severe AS cause, and accelerate therapy development. | eng |
| dc.identifier.citation | Camões Dos Santos, J., Cazaux Mateus, F., Arez, M., Bekman, E. P., & da Rocha, S. T. (2025). Generation of two pairs of induced pluripotent stem cells from Angelman syndrome patients with class I 15q11.2-q13.1 deletions and their unaffected familial controls. Stem cell research, 86, 103741. https://doi.org/10.1016/j.scr.2025.103741 | |
| dc.identifier.doi | 10.1016/j.scr.2025.103741 | |
| dc.identifier.issn | 1876-7753 | |
| dc.identifier.uri | http://hdl.handle.net/10400.26/63043 | |
| dc.language.iso | eng | |
| dc.peerreviewed | yes | |
| dc.publisher | Elsevier | |
| dc.relation.hasversion | https://doi.org/10.1016/j.scr.2025.103741 | |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
| dc.subject | Angelman syndrome | |
| dc.subject | induced pluripotent stem cells | |
| dc.title | Generation of two pairs of induced pluripotent stem cells from Angelman syndrome patients with class I 15q11.2-q13.1 deletions and their unaffected familial controls | eng |
| dc.type | contribution to journal | |
| dspace.entity.type | Publication | |
| oaire.citation.startPage | 103741 | |
| oaire.citation.title | Stem Cell Research | |
| oaire.citation.volume | 86 | |
| oaire.version | http://purl.org/coar/version/c_970fb48d4fbd8a85 |