TY - JOUR
T1 - Generation of an induced pluripotent stem cell line (EURACi005-A) from a Parkinson's disease patient carrying a homozygous exon 3 deletion in the PRKNgene
AU - Zanon, Alessandra
AU - Riekschnitz, Diana
AU - von Troyer, Michael
AU - Volpato, Claudia
AU - Picard, Anne
AU - Cantaloni, Chiara
AU - Di Segni, Marina
AU - Silipigni, Rosamaria
AU - Pramstaller, Peter P.
AU - Hicks, Andrew A.
AU - Pichler, Irene
PY - 2019/12
Y1 - 2019/12
N2 - Mutations in the PRKN gene, encoding parkin, are the most frequent known cause of recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line of a patient carrying a homozygous deletion of exon 3 in the PRKN gene. Skin fibroblasts were reprogrammed using non-integrating episomal plasmids. The generated cell line (EURACi005-A; iPS-2011) exhibits expression of pluripotency markers, the potential to differentiate into all three germ layers, and a stable karyotype. This iPSC line provides a valuable resource for further research on the pathomechanism and drug testing for PRKN-linked PD.
AB - Mutations in the PRKN gene, encoding parkin, are the most frequent known cause of recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line of a patient carrying a homozygous deletion of exon 3 in the PRKN gene. Skin fibroblasts were reprogrammed using non-integrating episomal plasmids. The generated cell line (EURACi005-A; iPS-2011) exhibits expression of pluripotency markers, the potential to differentiate into all three germ layers, and a stable karyotype. This iPSC line provides a valuable resource for further research on the pathomechanism and drug testing for PRKN-linked PD.
UR - http://www.scopus.com/inward/record.url?scp=85074643236&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85074643236&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2019.101624
DO - 10.1016/j.scr.2019.101624
M3 - Article
AN - SCOPUS:85074643236
VL - 41
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
M1 - 101624
ER -