|Title:||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||Authors:||Cheng Y.-C.
|Issue Date:||2019||Publisher:||Elsevier B.V.||Journal Volume:||37||Source:||Stem Cell Research||Abstract:||
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. ? 2019
|ISSN:||1873-5061||DOI:||10.1016/j.scr.2019.101432||SDG/Keyword:||alpha smooth muscle actin; phospholipase A2 group VI; phospholipase A2 group VI; PLA2G6 protein, human; Article; cell differentiation; chromosome analysis; controlled study; flow cytometry; gene mutation; germ layer; human; human cell; immunocytochemistry; immunofluorescence test; in vivo study; induced pluripotent stem cell; karyotyping; Mycoplasma; nuclear reprogramming; Parkinson disease; pathophysiology; peripheral blood mononuclear cell; priority journal; Sanger sequencing; Southern blotting; adult; animal; cell culture; cell differentiation; female; genetics; homozygote; induced pluripotent stem cell; metabolism; mononuclear cell; mouse; mutation; nonobese diabetic mouse; onset age; Parkinson disease; pathology; phenotype; SCID mouse; teratoma; Adult; Age of Onset; Animals; Cell Differentiation; Cells, Cultured; Cellular Reprogramming; Female; Group VI Phospholipases A2; Homozygote; Humans; Induced Pluripotent Stem Cells; Leukocytes, Mononuclear; Mice; Mice, Inbred NOD; Mice, SCID; Mutation; Parkinson Disease; Phenotype; Teratoma
|Appears in Collections:||醫學系|
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