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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http://dx.doi.org/10.1016/j.scr.2019.101432 | DOI Listing |
Sci China Life Sci
January 2025
Department of Cell Biology, School of Basic Medical Sciences, Peking University Stem Cell Research Center, Peking University Health Science Center, Peking University, Beijing, 100191, China.
Human primed pluripotent stem cells are capable of generating all the embryonic lineages. However, their extraembryonic trophectoderm potentials are limited. It remains unclear how to expand their developmental potential to trophectoderm lineages.
View Article and Find Full Text PDFNeuropharmacology
January 2025
Department of Psychiatry and Center for Circadian Biology, University of California San Diego, La Jolla, CA, USA; VA San Diego Healthcare System, San Diego, CA, USA. Electronic address:
Bipolar disorder (BD) is a severe mental illness characterized by recurrent episodes of depression and mania. Lithium is the gold standard pharmacotherapy for BD, but outcomes are variable, and the relevant therapeutic mechanisms underlying successful treatment response remain uncertain. To identify synaptic markers of BD and lithium response, we measured the effects of lithium on induced pluripotent stem cell-derived neurons from BD patients and controls.
View Article and Find Full Text PDFStem Cell Reports
January 2025
Division of Stem Cell Medicine, Graduate School of Medicine, Kobe University, Kobe, Japan; Division of Advanced Medical Science, Graduate School of Science, Technology and Innovation, Kobe University, Kobe, Japan; Center for Human Resource Development for Regenerative Medicine, Kobe University Hospital, Kobe, Japan; Division of Signal Pathways, Biosignal Research Center, Kobe University, Kobe, Japan. Electronic address:
Late-onset hypogonadism (LOH) syndrome is characterized by age-related testosterone deficiency and negatively affects the quality of life of older men. A promising therapeutic approach for LOH syndrome is transplantation of testosterone-producing Leydig-like cells (LLCs) derived from human induced pluripotent stem cells (hiPSCs). However, previous studies have encountered obstacles, such as limited cell longevity, insufficient testosterone production, and inefficiency of differentiation.
View Article and Find Full Text PDFStem Cell Res
January 2025
Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Baszucki Family Vascular Surgery Biobank, USA; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA. Electronic address:
Long COVID, or post-acute sequelae of SARS-CoV-2 infection, leads to vascular dysfunction, which contributes to the chronic multi-organ damage often seen in affected patients. Long COVID, a global health concern is associated with increased thrombotic risk, also known as COVID-19-associated coagulopathy (CAC). Here, we derived an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a long COVID patient.
View Article and Find Full Text PDFBiomed Pharmacother
January 2025
Laboratory for Functional Imaging & Research on Stem Cells, BIOMED, Faculty of Medicine and Life Sciences, Hasselt University, Diepenbeek, Belgium. Electronic address:
Charcot-Marie-Tooth disease type 1A (CMT1A) is an inherited peripheral neuropathy caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. It is primarily marked by Schwann cell dedifferentiation and demyelination, leading to motor and sensory deficits. Cyclic adenosine monophosphate (cAMP) is crucial for Schwann cell differentiation and maturation.
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