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Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson's disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method.
Gilmozzi, Valentina; Gentile, Giovanna; Riekschnitz, Diana A; Volpato, Claudia B; Di Segni, Marina; Silipigni, Rosamaria; Pramstaller, Peter P; Hicks, Andrew A; Pichler, Irene; Zanon, Alessandra.
Afiliação
  • Gilmozzi V; Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany.
  • Gentile G; Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany.
  • Riekschnitz DA; Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany.
  • Volpato CB; Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany.
  • Di Segni M; Laboratory of Medical Genetics, Fondazione IRCCS Cá Granda, Ospedale Maggiore Policlinico, Milano, Italy.
  • Silipigni R; Laboratory of Medical Genetics, Fondazione IRCCS Cá Granda, Ospedale Maggiore Policlinico, Milano, Italy.
  • Pramstaller PP; Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany; Department of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.
  • Hicks AA; Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany.
  • Pichler I; Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany. Electronic address: irene.pichler@eurac.edu.
  • Zanon A; Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lübeck, Germany. Electronic address: alessandra.zanon@eurac.edu.
Stem Cell Res ; 60: 102713, 2022 04.
Article em En | MEDLINE | ID: mdl-35189566
The SNCA gene encodes the presynaptic α-synuclein (aSyn) protein, and its mutations are associated with autosomal dominant Parkinson's disease (PD). We describe the generation of an induced pluripotent stem cell (iPSC) line of a patient carrying a pathogenic Ala53Thr missense mutation in the SNCA gene. Human dermal fibroblasts were reprogrammed using a non-integrating episomal method. The generated iPSC line (EURACi014-A; iPS-1.1) shows expression of pluripotency markers, the potential to differentiate into all three germ layers, and a stable karyotype. Hence, this line represents a valuable resource for the study and modeling of the processes directly controlled by aSyn.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Células-Tronco Pluripotentes Induzidas Limite: Humans Idioma: En Revista: Stem Cell Res Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Células-Tronco Pluripotentes Induzidas Limite: Humans Idioma: En Revista: Stem Cell Res Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido