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

3 Citações (Scopus)

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

Acesso ao documento

10.1016/j.scr.2022.102757

Outros arquivos e links

Link to publication in Scopus

Impressão digital

Mergulhe nos tópicos de investigação de “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“. Em conjunto formam uma impressão digital única.

Citar isto

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

@article{6db438e785e8481594e4516843b5316e,

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",

issn = "1873-5061",

publisher = "Elsevier B.V.",

}

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

TY - JOUR

T1 - 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

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

PY - 2022/5

Y1 - 2022/5

N2 - 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.

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.

UR - https://www.scopus.com/pages/publications/85126860358

U2 - 10.1016/j.scr.2022.102757

DO - 10.1016/j.scr.2022.102757

M3 - Article

C2 - 35339881

AN - SCOPUS:85126860358

SN - 1873-5061

VL - 61

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 102757

ER -