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Generation of an induced pluripotent stem cell line (CSC-32) from a patient with Parkinson's disease carrying a heterozygous variation p.A53T in the SNCA gene.
Azevedo, Carla; Chumarina, Margarita; Serafimova, Evgenija; Goldwurm, Stefano; Collin, Anna; Roybon, Laurent; Savchenko, Ekaterina; Pomeshchik, Yuriy.
Afiliação
  • Azevedo C; Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden.
  • Chumarina M; Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden.
  • Serafimova E; Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden.
  • Goldwurm S; Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy.
  • Collin A; Department of Clinical Genetics and Pathology, Office for Medical Services, Division of Laboratory Medicine, Lund, Sweden.
  • Roybon L; Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden. Electronic address: laurent.roybon@med.lu.se.
  • Savchenko E; Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden.
  • Pomeshchik Y; Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden.
Stem Cell Res ; 43: 101694, 2020 03.
Article em En | MEDLINE | ID: mdl-31954327
Here, we describe the generation of an induced pluripotent stem cell (iPSC) line, from a male patient diagnosed with Parkinson's disease (PD). The patient carries a heterozygous variation p.A53T in the SNCA gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated iPSC line (CSC-32) preserved the mutation, displayed expression of common pluripotency markers, differentiated into derivatives of the three germ layers, and exhibited a normal karyotype. The clone CSC-32B is presented thereafter; it can be used to study the mechanisms underlying PD pathogenesis.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Alfa-Sinucleína / Células-Tronco Pluripotentes Induzidas Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Alfa-Sinucleína / Células-Tronco Pluripotentes Induzidas Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article