Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein

Angela D'Anzi; Filomena Altieri; Elisa Perciballi; Daniela Ferrari; Barbara Torres; Laura Bernardini; Serena Lattante; Mario Sabatelli; Angelo Luigi Vescovi; Jessica Rosati

doi:10.1016/j.scr.2021.102356

Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein

Angela D'Anzi, Filomena Altieri, Elisa Perciballi, Daniela Ferrari, Barbara Torres, Laura Bernardini, Serena Lattante, Mario Sabatelli, Angelo Luigi Vescovi, Jessica Rosati

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative condition with phenotypic and genetic heterogeneity. It is characterized by the selective vulnerability and the progressive loss of the neural population. Here, an induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of an individual carrying the p.G376D mutation in the TDP-43 protein. Fibroblasts were reprogrammed using non-integrating episomal plasmids. There were no karyotype abnormalities, and iPSCs successfully differentiated into all three germ layers. This cell line may prove useful in the study of the pathogenic mechanisms that underpin ALS syndrome.

Original language	English (US)
Article number	102356
Pages (from-to)	102356
Journal	Stem Cell Research
Volume	53
DOIs	https://doi.org/10.1016/j.scr.2021.102356
State	Published - May 2021

Keywords

Amyotrophic Lateral Sclerosis/genetics
Cell Differentiation
Cell Line
Fibroblasts
Humans
Induced Pluripotent Stem Cells
Mutation

ASJC Scopus subject areas

Cell Biology
Developmental Biology

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10.1016/j.scr.2021.102356

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D'Anzi, A., Altieri, F., Perciballi, E., Ferrari, D., Torres, B., Bernardini, L., Lattante, S., Sabatelli, M., Vescovi, A. L., & Rosati, J. (2021). Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein. Stem Cell Research, 53, 102356. Article 102356. https://doi.org/10.1016/j.scr.2021.102356

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title = "Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein",

abstract = "Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative condition with phenotypic and genetic heterogeneity. It is characterized by the selective vulnerability and the progressive loss of the neural population. Here, an induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of an individual carrying the p.G376D mutation in the TDP-43 protein. Fibroblasts were reprogrammed using non-integrating episomal plasmids. There were no karyotype abnormalities, and iPSCs successfully differentiated into all three germ layers. This cell line may prove useful in the study of the pathogenic mechanisms that underpin ALS syndrome.",

keywords = "Amyotrophic Lateral Sclerosis/genetics, Cell Differentiation, Cell Line, Fibroblasts, Humans, Induced Pluripotent Stem Cells, Mutation",

author = "Angela D'Anzi and Filomena Altieri and Elisa Perciballi and Daniela Ferrari and Barbara Torres and Laura Bernardini and Serena Lattante and Mario Sabatelli and Vescovi, {Angelo Luigi} and Jessica Rosati",

note = "Funding Information: The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Jessica Rosati reports financial support was provided by Italian Ministry of Health. Publisher Copyright: {\textcopyright} 2021 The Author(s) Copyright {\textcopyright} 2021 The Author(s). Published by Elsevier B.V. All rights reserved.",

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language = "English (US)",

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AU - D'Anzi, Angela

AU - Altieri, Filomena

AU - Perciballi, Elisa

AU - Ferrari, Daniela

AU - Torres, Barbara

AU - Bernardini, Laura

AU - Lattante, Serena

AU - Sabatelli, Mario

AU - Vescovi, Angelo Luigi

AU - Rosati, Jessica

N1 - Funding Information: The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Jessica Rosati reports financial support was provided by Italian Ministry of Health. Publisher Copyright: © 2021 The Author(s) Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

PY - 2021/5

Y1 - 2021/5

N2 - Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative condition with phenotypic and genetic heterogeneity. It is characterized by the selective vulnerability and the progressive loss of the neural population. Here, an induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of an individual carrying the p.G376D mutation in the TDP-43 protein. Fibroblasts were reprogrammed using non-integrating episomal plasmids. There were no karyotype abnormalities, and iPSCs successfully differentiated into all three germ layers. This cell line may prove useful in the study of the pathogenic mechanisms that underpin ALS syndrome.

AB - Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative condition with phenotypic and genetic heterogeneity. It is characterized by the selective vulnerability and the progressive loss of the neural population. Here, an induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of an individual carrying the p.G376D mutation in the TDP-43 protein. Fibroblasts were reprogrammed using non-integrating episomal plasmids. There were no karyotype abnormalities, and iPSCs successfully differentiated into all three germ layers. This cell line may prove useful in the study of the pathogenic mechanisms that underpin ALS syndrome.

KW - Amyotrophic Lateral Sclerosis/genetics

KW - Cell Differentiation

KW - Cell Line

KW - Fibroblasts

KW - Humans

KW - Induced Pluripotent Stem Cells

KW - Mutation

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Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein

Abstract

Keywords

ASJC Scopus subject areas

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