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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Author(s)
Larsen, Simone B
Hanss, Zoe
Cruciani, Gerald
Massart, Francois
Barbuti, Peter A
Mellick, George
Kruger, Rejko
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2020
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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.

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Stem Cell Research

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45

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NHMRC

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GNT1084560

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© 2020 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/BY-NC-ND/4.0/), which permits unrestricted, non-commercial use, distribution and reproduction in any medium, providing that the work is properly cited.

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Biological sciences

Biomedical and clinical sciences

Genetics

Medical biotechnology

Oncology and carcinogenesis

Science & Technology

Life Sciences & Biomedicine

Cell & Tissue Engineering

Biotechnology & Applied Microbiology

Cell Biology

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Larsen, SB; Hanss, Z; Cruciani, G; Massart, F; Barbuti, PA; Mellick, G; Kruger, R, Induced pluripotent stem cell line (LCSBi001-A) derived from a patient with Parkinson's disease carrying the p.D620N mutation in VPS35, Stem Cell Research, 2020, 45, pp. 101776

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