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

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 pro...

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Main Authors: J. Frew, X. Wu, G.Y. Hsiung, H.H. Feldman, I.R. Mackenzie, H.B. Nygaard
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119302120
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spelling doaj-b750638ae7834972a65d062463c1ff7f2020-11-24T21:42:19ZengElsevierStem Cell Research1873-50612019-12-0141Generation of an induced pluripotent stem cell line (UBCi001-A) from a presymptomatic individual carrying the R418X progranulin gene mutationJ. Frew0X. Wu1G.Y. Hsiung2H.H. Feldman3I.R. Mackenzie4H.B. Nygaard5University of British Columbia, Department of Medicine, Division of Neurology, Djavad Mowafaghian Centre for Brain Health, Vancouver, British Columbia, CanadaUniversity of British Columbia, Department of Medicine, Division of Neurology, Djavad Mowafaghian Centre for Brain Health, Vancouver, British Columbia, CanadaUniversity of British Columbia, Department of Medicine, Division of Neurology, Djavad Mowafaghian Centre for Brain Health, Vancouver, British Columbia, CanadaUniversity 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, USAUniversity of British Columbia, Department of Pathology and Laboratory Medicine, Vancouver, British Columbia, CanadaUniversity of British Columbia, Department of Medicine, Division of Neurology, Djavad Mowafaghian Centre for Brain Health, Vancouver, British Columbia, Canada; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1873506119302120
collection DOAJ
language English
format Article
sources DOAJ
author J. Frew
X. Wu
G.Y. Hsiung
H.H. Feldman
I.R. Mackenzie
H.B. Nygaard
spellingShingle J. Frew
X. Wu
G.Y. Hsiung
H.H. Feldman
I.R. Mackenzie
H.B. Nygaard
Generation of an induced pluripotent stem cell line (UBCi001-A) from a presymptomatic individual carrying the R418X progranulin gene mutation
Stem Cell Research
author_facet J. Frew
X. Wu
G.Y. Hsiung
H.H. Feldman
I.R. Mackenzie
H.B. Nygaard
author_sort J. Frew
title Generation of an induced pluripotent stem cell line (UBCi001-A) from a presymptomatic individual carrying the R418X progranulin gene mutation
title_short Generation of an induced pluripotent stem cell line (UBCi001-A) from a presymptomatic individual carrying the R418X progranulin gene mutation
title_full Generation of an induced pluripotent stem cell line (UBCi001-A) from a presymptomatic individual carrying the R418X progranulin gene mutation
title_fullStr Generation of an induced pluripotent stem cell line (UBCi001-A) from a presymptomatic individual carrying the R418X progranulin gene mutation
title_full_unstemmed Generation of an induced pluripotent stem cell line (UBCi001-A) from a presymptomatic individual carrying the R418X progranulin gene mutation
title_sort generation of an induced pluripotent stem cell line (ubci001-a) from a presymptomatic individual carrying the r418x progranulin gene mutation
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2019-12-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506119302120
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