Matches in SemOpenAlex for { <https://semopenalex.org/work/W4311486599> ?p ?o ?g. }
- W4311486599 abstract "Abstract Background The appearance of bilateral vestibular schwannomas (VS) is one of the most characteristic features of NF2-related schwannomatosis (NF2-related SWN), an autosomal dominant syndrome that predisposes to the development of tumours of the nervous system. VS are caused by the bi-allelic inactivation of the NF2 gene in a cell of the Schwann cell lineage. Our current understanding of VS initiation and progression as well as the development of new effective therapies is hampered by the absence of human non-perishable cell-based models. Principal Findings We generated and characterized induced pluripotent stem cell (iPSC) lines with single or bi-allelic inactivation of NF2 by combining the direct reprogramming of VS cells with the use of CRISPR/Cas9 editing. Despite the difficulty of maintaining merlin-deficient iPSCs, we were able to differentiate them into neural crest (NC) cells. At this stage, these cells showed spontaneous expression of the SC marker S100B and the impossibility of generating Schwann cells in 2D cultures. Nevertheless, by applying a 3D Schwann cell differentiation protocol, we successfully generated NF2 (+/-) and NF2 (-/-) spheroids homogeneously expressing classical markers of the NC-SC axis. Conclusions Our results show a critical function of NF2 for both reprograming and maintaining a stable pluripotent state. In addition, merlin-deficient cultures also denoted an altered differentiation capacity of merlin-deficient cells towards the NC-SC axis, in the in vitro conditions used. Finally, the generated NF2 (+/-) and NF2 (-/-) spheroids show potential as a genuine in vitro model of NF2-related tumours." @default.
- W4311486599 created "2022-12-26" @default.
- W4311486599 creator A5010101486 @default.
- W4311486599 creator A5016791633 @default.
- W4311486599 creator A5021400858 @default.
- W4311486599 creator A5037864354 @default.
- W4311486599 creator A5038724372 @default.
- W4311486599 creator A5044987574 @default.
- W4311486599 creator A5046399679 @default.
- W4311486599 creator A5055588266 @default.
- W4311486599 creator A5056539239 @default.
- W4311486599 creator A5065850467 @default.
- W4311486599 creator A5069148314 @default.
- W4311486599 creator A5070912990 @default.
- W4311486599 creator A5072993642 @default.
- W4311486599 creator A5074812948 @default.
- W4311486599 creator A5075730851 @default.
- W4311486599 creator A5076668201 @default.
- W4311486599 creator A5083602198 @default.
- W4311486599 date "2022-12-14" @default.
- W4311486599 modified "2023-10-18" @default.
- W4311486599 title "Merlin-Deficient iPSCs Show Altered Pluripotency and Constitute a Potential<i>in Vitro</i>Model for NF2-Related Schwannomas" @default.
- W4311486599 cites W1971496676 @default.
- W4311486599 cites W1971959149 @default.
- W4311486599 cites W1983920067 @default.
- W4311486599 cites W2010793999 @default.
- W4311486599 cites W2015155360 @default.
- W4311486599 cites W2020754239 @default.
- W4311486599 cites W2035781246 @default.
- W4311486599 cites W2042567095 @default.
- W4311486599 cites W2059852545 @default.
- W4311486599 cites W2060655307 @default.
- W4311486599 cites W2086930534 @default.
- W4311486599 cites W2092322285 @default.
- W4311486599 cites W2107208863 @default.
- W4311486599 cites W2108745864 @default.
- W4311486599 cites W2114104545 @default.
- W4311486599 cites W2114550587 @default.
- W4311486599 cites W2116467086 @default.
- W4311486599 cites W2119477678 @default.
- W4311486599 cites W2121978023 @default.
- W4311486599 cites W2128021675 @default.
- W4311486599 cites W2130676729 @default.
- W4311486599 cites W2144581594 @default.
- W4311486599 cites W2145481360 @default.
- W4311486599 cites W2150706412 @default.
- W4311486599 cites W2151923337 @default.
- W4311486599 cites W2156571343 @default.
- W4311486599 cites W2159383827 @default.
- W4311486599 cites W2161655320 @default.
- W4311486599 cites W2169456326 @default.
- W4311486599 cites W2171683756 @default.
- W4311486599 cites W2174686320 @default.
- W4311486599 cites W2179438025 @default.
- W4311486599 cites W2185060905 @default.
- W4311486599 cites W2559934670 @default.
- W4311486599 cites W2565787913 @default.
- W4311486599 cites W2570522939 @default.
- W4311486599 cites W2590843946 @default.
- W4311486599 cites W2783225521 @default.
- W4311486599 cites W2796523908 @default.
- W4311486599 cites W2807218055 @default.
- W4311486599 cites W2807990177 @default.
- W4311486599 cites W2981209726 @default.
- W4311486599 cites W3117008508 @default.
- W4311486599 cites W3163151963 @default.
- W4311486599 cites W3179963300 @default.
- W4311486599 cites W3185320617 @default.
- W4311486599 cites W3193813836 @default.
- W4311486599 cites W3195167716 @default.
- W4311486599 cites W4212816296 @default.
- W4311486599 cites W4213245277 @default.
- W4311486599 cites W4234710402 @default.
- W4311486599 cites W4281849587 @default.
- W4311486599 doi "https://doi.org/10.1101/2022.12.14.520389" @default.
- W4311486599 hasPublicationYear "2022" @default.
- W4311486599 type Work @default.
- W4311486599 citedByCount "0" @default.
- W4311486599 crossrefType "posted-content" @default.
- W4311486599 hasAuthorship W4311486599A5010101486 @default.
- W4311486599 hasAuthorship W4311486599A5016791633 @default.
- W4311486599 hasAuthorship W4311486599A5021400858 @default.
- W4311486599 hasAuthorship W4311486599A5037864354 @default.
- W4311486599 hasAuthorship W4311486599A5038724372 @default.
- W4311486599 hasAuthorship W4311486599A5044987574 @default.
- W4311486599 hasAuthorship W4311486599A5046399679 @default.
- W4311486599 hasAuthorship W4311486599A5055588266 @default.
- W4311486599 hasAuthorship W4311486599A5056539239 @default.
- W4311486599 hasAuthorship W4311486599A5065850467 @default.
- W4311486599 hasAuthorship W4311486599A5069148314 @default.
- W4311486599 hasAuthorship W4311486599A5070912990 @default.
- W4311486599 hasAuthorship W4311486599A5072993642 @default.
- W4311486599 hasAuthorship W4311486599A5074812948 @default.
- W4311486599 hasAuthorship W4311486599A5075730851 @default.
- W4311486599 hasAuthorship W4311486599A5076668201 @default.
- W4311486599 hasAuthorship W4311486599A5083602198 @default.
- W4311486599 hasBestOaLocation W43114865991 @default.
- W4311486599 hasConcept C104317684 @default.
- W4311486599 hasConcept C107459253 @default.
- W4311486599 hasConcept C126749454 @default.