Generation of an induced pluripotent stem cell line (UBCi001-A) from a presymptomatic individual carrying the R418X progranulin gene mutation


Induced pluripotent stem cells (iPSCs) were generated from peripheral blood-derived erythroid progenitor cells obtained from a presymptomatic female carrying the heterozygous R418X progranulin (GRN) nonsense mutation, known to cause autosomal dominant frontotemporal lobar degeneration. Erythroid progenitor cells were reprogrammed into iPSCs using integration free episomal plasmids which enables exogenous expression of the Yamanaka factors. The pluripotent potential of the iPSCs was validated through expression of pluripotency factors and their capacity to differentiate into the three primary germ layers. The cells were confirmed to carry the described mutation and shown to have a normal karyotype. Copyright © 2019 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Frew J, Wu X, Hsiung GY, Feldman HH, Mackenzie IR, Nygaard HB
Journal Stem cell research
Publication Date 2019 Dec;41:101582
PubMed 31707213
DOI 10.1016/j.scr.2019.101582

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