Induced pluripotent stem cell line (LCSBi001-A) derived from a patient with Parkinson's disease carrying the p.D620N mutation in VPS35

Simone B. Larsen; Zoé Hanss; Gérald Cruciani; François Massart; Peter A. Barbuti; George Mellick; Rejko Krüger

doi:10.1016/j.scr.2020.101776

Induced pluripotent stem cell line (LCSBi001-A) derived from a patient with Parkinson's disease carrying the p.D620N mutation in VPS35

Simone B. Larsen, Zoé Hanss^*, Gérald Cruciani, François Massart, Peter A. Barbuti, George Mellick, Rejko Krüger

^*Corresponding author for this work

Transversal Translational Medicine

Research output: Contribution to journal › Article › Research › peer-review

5 Citations (Scopus)

Abstract

Fibroblasts were obtained from a 76 year-old man diagnosed with Parkinson's disease (PD). The disease is caused by a heterozygous p.D620N mutation in VPS35. Induced pluripotent stem cells (iPSCs) were generated using the CytoTune™-iPS 2.0 Sendai Reprogramming Kit (Thermo Fisher Scientific). The presence of the c.1858G > A base exchange in exon 15 of VPS35 was confirmed by Sanger sequencing. The iPSCs are free of genomically integrated reprogramming genes, express pluripotency markers, display in vitro differentiation potential to the three germ layers and have karyotypic integrity. Our iPSC line will be useful for studying the impact of the p.D620N mutation in VPS35 in vitro.

Original language	English
Article number	101776
Journal	Stem Cell Research
Volume	45
DOIs	https://doi.org/10.1016/j.scr.2020.101776
Publication status	Published - May 2020

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@article{a92f0bb47d944336881f2014ddec16d3,

title = "Induced pluripotent stem cell line (LCSBi001-A) derived from a patient with Parkinson's disease carrying the p.D620N mutation in VPS35",

abstract = "Fibroblasts were obtained from a 76 year-old man diagnosed with Parkinson's disease (PD). The disease is caused by a heterozygous p.D620N mutation in VPS35. Induced pluripotent stem cells (iPSCs) were generated using the CytoTune{\texttrademark}-iPS 2.0 Sendai Reprogramming Kit (Thermo Fisher Scientific). The presence of the c.1858G > A base exchange in exon 15 of VPS35 was confirmed by Sanger sequencing. The iPSCs are free of genomically integrated reprogramming genes, express pluripotency markers, display in vitro differentiation potential to the three germ layers and have karyotypic integrity. Our iPSC line will be useful for studying the impact of the p.D620N mutation in VPS35 in vitro.",

author = "Larsen, {Simone B.} and Zo{\'e} Hanss and G{\'e}rald Cruciani and Fran{\c c}ois Massart and Barbuti, {Peter A.} and George Mellick and Rejko Kr{\"u}ger",

note = "Funding Information: This study was supported by grants from the Fond National de Recherche within the PEARL programme ( FNR/P13/6682797 to RK), the NCER-PD programme ( NCER13/BM/11264123 ) and by the European Union's Horizon 2020 research and innovation programme under grant agreement No 692320 (WIDESPREAD; CENTRE-PD). Publisher Copyright: {\textcopyright} 2020 The Authors",

year = "2020",

month = may,

doi = "10.1016/j.scr.2020.101776",

language = "English",

volume = "45",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

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T1 - Induced pluripotent stem cell line (LCSBi001-A) derived from a patient with Parkinson's disease carrying the p.D620N mutation in VPS35

AU - Larsen, Simone B.

AU - Hanss, Zoé

AU - Cruciani, Gérald

AU - Massart, François

AU - Barbuti, Peter A.

AU - Mellick, George

AU - Krüger, Rejko

N1 - Funding Information: This study was supported by grants from the Fond National de Recherche within the PEARL programme ( FNR/P13/6682797 to RK), the NCER-PD programme ( NCER13/BM/11264123 ) and by the European Union's Horizon 2020 research and innovation programme under grant agreement No 692320 (WIDESPREAD; CENTRE-PD). Publisher Copyright: © 2020 The Authors

PY - 2020/5

Y1 - 2020/5

N2 - Fibroblasts were obtained from a 76 year-old man diagnosed with Parkinson's disease (PD). The disease is caused by a heterozygous p.D620N mutation in VPS35. Induced pluripotent stem cells (iPSCs) were generated using the CytoTune™-iPS 2.0 Sendai Reprogramming Kit (Thermo Fisher Scientific). The presence of the c.1858G > A base exchange in exon 15 of VPS35 was confirmed by Sanger sequencing. The iPSCs are free of genomically integrated reprogramming genes, express pluripotency markers, display in vitro differentiation potential to the three germ layers and have karyotypic integrity. Our iPSC line will be useful for studying the impact of the p.D620N mutation in VPS35 in vitro.

AB - Fibroblasts were obtained from a 76 year-old man diagnosed with Parkinson's disease (PD). The disease is caused by a heterozygous p.D620N mutation in VPS35. Induced pluripotent stem cells (iPSCs) were generated using the CytoTune™-iPS 2.0 Sendai Reprogramming Kit (Thermo Fisher Scientific). The presence of the c.1858G > A base exchange in exon 15 of VPS35 was confirmed by Sanger sequencing. The iPSCs are free of genomically integrated reprogramming genes, express pluripotency markers, display in vitro differentiation potential to the three germ layers and have karyotypic integrity. Our iPSC line will be useful for studying the impact of the p.D620N mutation in VPS35 in vitro.

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UR - https://www.ncbi.nlm.nih.gov/pubmed/32387898

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SN - 1873-5061

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JO - Stem Cell Research

JF - Stem Cell Research

M1 - 101776

ER -

Induced pluripotent stem cell line (LCSBi001-A) derived from a patient with Parkinson's disease carrying the p.D620N mutation in VPS35

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