Mutations in the glucocerebrosidase (GBA) gene have been associated with the development of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line was generated from a 60-year old patient diagnosed with PD and carrying a new mutation variant p.R301C in GBA. Using non-integrating Sendai virus-based technology, we utilized OCT3/4, SOX2, c-MYC and KLF4 transcription factors to reprogram skin fibroblasts into iPSCs. The generated iPSC line retained the mutation, displayed expression of common pluripotency markers, differentiated into the three germ layers, and exhibited normal karyotype. The iPSC line can be further used for studying PD pathogenesis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.scr.2018.101373 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Ion channel traffic jams: the significance of trafficking deficiency in long QT syndrome.
Cell Discov
January 2025
Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
A well-balanced ion channel trafficking machinery is paramount for the normal electromechanical function of the heart. Ion channel variants and many drugs can alter the cardiac action potential and lead to arrhythmias by interfering with mechanisms like ion channel synthesis, trafficking, gating, permeation, and recycling. A case in point is the Long QT syndrome (LQTS), a highly arrhythmogenic disease characterized by an abnormally prolonged QT interval on ECG produced by variants and drugs that interfere with the action potential.
View Article and Find Full Text PDFA human induced pluripotent stem cell line, NIMHi016-A, established from fibroblasts of a neuromuscular disease patient carrying PGK1/p. Asn5Lys variant.
Stem Cell Res
January 2025
Department of Biophysics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India. Electronic address:
PGK1 (phosphoglycerate kinase-1) is required for ATP production in the body. Mutation in the PGK1 gene causes a rare, inherited metabolic disorder causing deficiency of enzyme PGK1, leading to hemolytic anemia, neurological symptoms, and muscle weakness. We generated induced pluripotent stem cells (iPSCs) from a patient carrying a PGK1 variant by isolating fibroblasts from skin punch biopsy and reprogramming using CytoTune iPS 2.
View Article and Find Full Text PDFA PAS-targeting hERG1 activator reduces arrhythmic events in Jervell and Lange-Nielsen syndrome patient-derived hiPSC-CMs.
JCI Insight
January 2025
Department of Pharmacology, University of Michigan Medical School, Ann Arbor, United States of America.
The hERG1 potassium channel conducts the cardiac repolarizing current, IKr. hERG1 has emerged as a therapeutic target for cardiac diseases marked by prolonged actional potential duration (APD). Unfortunately, many hERG1 activators display off-target and proarrhythmic effects that limit their therapeutic potential.
View Article and Find Full Text PDFHuman organoids for rapid validation of gene variants linked to cochlear malformations.
Hum Genet
January 2025
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital. The majority of patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of identified genetic variants. We used exome sequencing for the genetic evaluation of hearing loss associated with cochlear malformations in three probands from unrelated families deafness.
View Article and Find Full Text PDFBackground: Down Syndrome (DS) is the most common genetic form of intellectual disability. In recent years, there has been a significant increase in the life expectancy of individuals with DS, currently reaching the age of 60 or over. However, it has been observed that as of age 40, these individuals experience higher risk of developing dementia, and almost all of them exhibit histopathological characteristics of Alzheimer's disease (AD) in their brains.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!