Mutations in an open-reading frame on chromosome 19 (C19orf12) were identified as one of the causative genes for neurodegeneration with brain iron accumulation (NBIA). Because of the mitochondrial localization of the derived protein, this variant is referred to as mitochondrial membrane protein-associated neurodegeneration with brain iron accumulation (MPAN). Here, we used the Sendai virus delivery system to generate induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of a female patient with MPAN having a novel heterozygous frameshift mutation caused by an insertion, c.273_274insA (p.P92Tfs*9), in C19orf12. This cellular model could provide a platform for pathophysiological studies of MPAN.
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| http://dx.doi.org/10.1016/j.scr.2020.102032 | DOI Listing |
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