6 documents found, page 1 of 1
Generation of an induced pluripotent stem cell line (CSC-46) from a patient wit...
Gustavsson, Nadja; Marote, Ana; Pomeshchik, Yuriy; Russ, Kaspar; Azevedo, Carla; Chumarina, Margarita; Goldwurm, Stefano; Collin, Anna; Pinto, LuísaMutations in the glucocerebrosidase (GBA) gene have been associated with the development of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line was generated from a 60-year old patient diagnosed with PD and carrying a new mutation variant p.R301C in GBA. Using non-integrating Sendai virus-based technology, we utilized OCT3/4, SOX2, c-MYC and KLF4 transcription factors to reprogram skin fibrob...
Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's...
Marote, Ana; Pomeshchik, Yuriy; Collin, Anna; Goldwurm, Stefano; Lamas, Nuno J.; Pinto, Luísa; Salgado, A. J.; Roybon, LaurentThe leucine-rich repeat kinase 2 (LRRK2) p.G2019S mutation is the most common genetic cause of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line CSC-41 was generated from a 75-year old patient diagnosed with PD caused by a p.G2019S mutation in LRRK2. Skin fibroblasts were reprogrammed using a non-integrating Sendai virus-based technology to deliver OCT3/4, SOX2, c-MYC and KLF4 transcription...
Generation of a human induced pluripotent stem cell line (CSC-42) from a patien...
Savchenko, Ekaterina; Marote, Ana Maria Franco Aveiro; Russ, Kaspar; Collin, Anna; Goldwurm, Stefano; Roybon, Laurent; Pomeshchik, YuriySkin fibroblasts were collected from a 44-year-old patient with sporadic case of Parkinson's disease (PD). The non-integrating Sendai virus vector encoding OCT3/4, SOX2, c-MYC and KLF4 was used to reprogram fibroblasts into induced pluripotent stem cells (iPSCs). Generated iPSCs had normal karyotypes, expressed common stem cell markers, and were capable of differentiating into all three germ layers. Generated l...
Generation of an integration-free induced pluripotent stem cell line (CSC-43) f...
Marote, Ana Maria Franco Aveiro; Pomeshchik, Yuriy; Goldwurm, Stefano; Collin, Anna; Lamas, Nuno J.; Pinto, Luísa; Salgado, A. J.; Roybon, LaurentAn induced pluripotent stem cell (iPSC) line was generated from a 36-year-old patient with sporadic Parkinson's disease (PD). Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line (CSC-43) exhibits expression of common pluripotency markers, in vitro differentiation into three germ layers and normal karyotype....
Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's...
Marote, Ana Maria Franco Aveiro; Pomeshchik, Yuriy; Goldwurm, Stefano; Collin, Anna; Lamas, Nuno Jorge; Pinto, Luísa; Salgado, A. J.; Roybon, LaurentMutations in the PARK2 gene, which encodes PARKIN, are the most frequent cause of autosomal recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line from a 78-year-old patient carrying a compound heterozygous mutation (c.823C>T and EX6del) in the PARK2 gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4,...
Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkin...
Russ, Kaspar; Marote, Ana Maria Franco Aveiro; Savchenko, Ekaterina; Collin, Anna; Goldwurm, Stefano; Pomeshchik, Yuriy; Roybon, LaurentParkinson's disease (PD) is a neurodegenerative disease with unknown etiology. Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. A non-integra...