Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients
Language English Country England, Great Britain Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
34087982
DOI
10.1016/j.scr.2021.102338
PII: S1873-5061(21)00184-7
Knihovny.cz E-resources
- MeSH
- Cell Differentiation MeSH
- Cell Line MeSH
- Group VI Phospholipases A2 MeSH
- Induced Pluripotent Stem Cells * MeSH
- Kruppel-Like Factor 4 MeSH
- Humans MeSH
- Mutation MeSH
- Neuroaxonal Dystrophies * MeSH
- Cellular Reprogramming MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Group VI Phospholipases A2 MeSH
- KLF4 protein, human MeSH Browser
- Kruppel-Like Factor 4 MeSH
- PLA2G6 protein, human MeSH Browser
The human iPSC cell lines, PLANFiPS1-Sv4F-1 (RCPFi004-A), PLANFiPS2-Sv4F-1 (RCPFi005-A), PLANFiPS3-Sv4F-1 RCPFi006-A), derived from dermal fibroblast from three patients suffering PLAN (PLA2G6-associated neurodegeneration; MIM 256600) caused by mutations in the PLA2G6 gene, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors. The pluripotency was assessed by immunocytochemistry and RT-PCR. Differentiation capacity was verified in vitro. This iPSC line can be further differentiated toward affected cells to better understand molecular mechanisms of disease and pathophysiology.
Centro Andaluz de Biología del Desarrollo Madrid Spain
Department of Pediatric Neurology Hospital Universitario San Pedro de Alcántara Cáceres Spain
Unit of Pediatric Movement Disorders Hospital Sant Joan de Déu Barcelona Spain
Unit of Rare Neurodegenerative Diseases Centro de Investigación Príncipe Felipe Valencia Spain
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