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Stem Cell Res. 2019 Nov 7;41:101582. doi: 10.1016/j.scr.2019.101582. [Epub ahead of print]

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

Author information

1
University of British Columbia, Department of Medicine, Division of Neurology, Djavad Mowafaghian Centre for Brain Health, Vancouver, British Columbia, Canada.
2
University of British Columbia, Department of Medicine, Division of Neurology, Djavad Mowafaghian Centre for Brain Health, Vancouver, British Columbia, Canada; University of California, San Diego, Department of Neurosciences, La Jolla, CA, USA.
3
University of British Columbia, Department of Pathology and Laboratory Medicine, Vancouver, British Columbia, Canada.
4
University of British Columbia, Department of Medicine, Division of Neurology, Djavad Mowafaghian Centre for Brain Health, Vancouver, British Columbia, Canada. Electronic address: haakon.nygaard@ubc.ca.

Abstract

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.

PMID:
31707213
DOI:
10.1016/j.scr.2019.101582
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