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

Carla Azevedo, Margarita Chumarina, Evgenija Serafimova, Stefano Goldwurm, Anna Collin, Laurent Roybon, Ekaterina Savchenko, Yuriy Pomeshchik

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskriftPeer review

1 Citering (SciVal)

Sammanfattning

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.

Originalspråkengelska
Artikelnummer101694
TidskriftStem Cell Research
Volym43
DOI
StatusPublished - 2020 mar

Ämnesklassifikation (UKÄ)

  • Medicinsk genetik

Fingeravtryck

Utforska forskningsämnen för ”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”. Tillsammans bildar de ett unikt fingeravtryck.

Citera det här