Reprogramming of a human induced pluripotent stem cell (iPSC) line (IBMSi012-A) from an early-onset Parkinson's disease patient harboring a homozygous p.D331Y mutation in the PLA2G6 gene

Autor: Yu-Che Cheng, Han-I Lin, Shih-Han Syu, Huai-En Lu, Ching-Ying Huang, Chin-Hsien Lin, Patrick C.H. Hsieh
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Stem Cell Research, Vol 37, Iss , Pp - (2019)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2019.101432
Popis: A recessive mutation in PLA2G6, which is known to cause a heterogeneous neurodegenerative clinical spectrum, has recently been shown to be responsible for autosomal-recessive familial forms of Parkinson's disease (PD). Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with a homozygous PLA2G6 c.991G > T (p.D331Y) mutation by using the Sendai-virus delivery system. The resulting iPSCs showed pluripotency confirmed by immunofluorescent staining for pluripotency markers and differentiated into the 3 germ layers in vivo. This cellular model will provide a good resource for further pathophysiological studies of PD.
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