Generation and characterization of induced pluripotent stem cell line (IBBISTi004-A) from an Angelman syndrome patient carrying a class II deletion of the maternal chromosome 15q11.2-q13

Carina Maranga; Carolina Pereira; Ana Cláudia Raposo; Adriana Vieira; Sofia Duarte; Evguenia P. Bekman; Inês Milagre; Simão Teixeira da Rocha

doi:10.1016/j.scr.2022.102757

Generation and characterization of induced pluripotent stem cell line (IBBISTi004-A) from an Angelman syndrome patient carrying a class II deletion of the maternal chromosome 15q11.2-q13

Carina Maranga, Carolina Pereira, Ana Cláudia Raposo, Adriana Vieira, Sofia Duarte, Evguenia P. Bekman, Inês Milagre, Simão Teixeira da Rocha

Resultado de pesquisa: ???type-name??? › ???researchoutput.researchoutputtypes.contributiontojournal.article??? › revisão de pares

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Resumo

Angelman Syndrome is a rare neurodevelopmental disorder caused by several (epi)genetic alterations. The patients present strong neurological impairment due to the absence of a functional maternal UBE3A gene in neurons. Here, we generated and characterized a new induced pluripotent stem cell (iPSC) line from a female child with Angelman syndrome harbouring a class II deletion. iPSCs were reprogrammed from fibroblasts using Sendai viruses. The new iPSCs express pluripotency markers, are capable of trilineage in vitro differentiation and have the expected imprinting status of Angelman syndrome. These iPSCs are a valuable tool to elucidate the pathophysiological mechanisms associated with this disease.

Idioma original	???core.languages.en_GB???
Número do artigo	102757
Revista	Stem Cell Research
Volume	61
DOIs	https://doi.org/10.1016/j.scr.2022.102757
Estado da publicação	???researchoutput.status.published??? - mai. 2022
Publicado externamente	Sim

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Maranga, C., Pereira, C., Raposo, A. C., Vieira, A., Duarte, S., Bekman, E. P., Milagre, I., & da Rocha, S. T. (2022). Generation and characterization of induced pluripotent stem cell line (IBBISTi004-A) from an Angelman syndrome patient carrying a class II deletion of the maternal chromosome 15q11.2-q13. Stem Cell Research, 61, Artigo 102757. https://doi.org/10.1016/j.scr.2022.102757

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title = "Generation and characterization of induced pluripotent stem cell line (IBBISTi004-A) from an Angelman syndrome patient carrying a class II deletion of the maternal chromosome 15q11.2-q13",

abstract = "Angelman Syndrome is a rare neurodevelopmental disorder caused by several (epi)genetic alterations. The patients present strong neurological impairment due to the absence of a functional maternal UBE3A gene in neurons. Here, we generated and characterized a new induced pluripotent stem cell (iPSC) line from a female child with Angelman syndrome harbouring a class II deletion. iPSCs were reprogrammed from fibroblasts using Sendai viruses. The new iPSCs express pluripotency markers, are capable of trilineage in vitro differentiation and have the expected imprinting status of Angelman syndrome. These iPSCs are a valuable tool to elucidate the pathophysiological mechanisms associated with this disease.",

author = "Carina Maranga and Carolina Pereira and Raposo, {Ana Cl{\'a}udia} and Adriana Vieira and Sofia Duarte and Bekman, {Evguenia P.} and In{\^e}s Milagre and {da Rocha}, {Sim{\~a}o Teixeira}",

note = "Publisher Copyright: {\textcopyright} 2022 The Authors",

year = "2022",

month = may,

doi = "10.1016/j.scr.2022.102757",

language = "English",

volume = "61",

journal = "Stem Cell Research",

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Maranga, C, Pereira, C, Raposo, AC, Vieira, A, Duarte, S, Bekman, EP, Milagre, I & da Rocha, ST 2022, 'Generation and characterization of induced pluripotent stem cell line (IBBISTi004-A) from an Angelman syndrome patient carrying a class II deletion of the maternal chromosome 15q11.2-q13', Stem Cell Research, vol. 61, 102757. https://doi.org/10.1016/j.scr.2022.102757

Generation and characterization of induced pluripotent stem cell line (IBBISTi004-A) from an Angelman syndrome patient carrying a class II deletion of the maternal chromosome 15q11.2-q13. / Maranga, Carina; Pereira, Carolina; Raposo, Ana Cláudia et al.
Em: Stem Cell Research, Vol. 61, 102757, 05.2022.

Resultado de pesquisa: ???type-name??? › ???researchoutput.researchoutputtypes.contributiontojournal.article??? › revisão de pares

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AU - Maranga, Carina

AU - Pereira, Carolina

AU - Raposo, Ana Cláudia

AU - Vieira, Adriana

AU - Duarte, Sofia

AU - Bekman, Evguenia P.

AU - Milagre, Inês

AU - da Rocha, Simão Teixeira

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AB - Angelman Syndrome is a rare neurodevelopmental disorder caused by several (epi)genetic alterations. The patients present strong neurological impairment due to the absence of a functional maternal UBE3A gene in neurons. Here, we generated and characterized a new induced pluripotent stem cell (iPSC) line from a female child with Angelman syndrome harbouring a class II deletion. iPSCs were reprogrammed from fibroblasts using Sendai viruses. The new iPSCs express pluripotency markers, are capable of trilineage in vitro differentiation and have the expected imprinting status of Angelman syndrome. These iPSCs are a valuable tool to elucidate the pathophysiological mechanisms associated with this disease.

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