Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients.

Stem Cell Res

Unit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain; Rare Diseases Joint Units, CIPF-IIS La Fe & INCLIVA, Valencia, Spain; Department of Genetics, Universitat de València, Valencia, Spain. Electronic address:

Published: May 2021

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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.

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http://dx.doi.org/10.1016/j.scr.2021.102338DOI Listing

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