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Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11

Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of upper and lower motor neurons, causing gradual paralysis, and resulting in death 3–5 years from diagnosis. ALS causative mutations have been identified in multiple genes, including Fused in sarcoma (FUS), and recently characteri...

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Autores principales: Hedges, Erin C., Topp, Simon, Shaw, Christopher E., Nishimura, Agnes L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7988463/
https://www.ncbi.nlm.nih.gov/pubmed/33610019
http://dx.doi.org/10.1016/j.scr.2021.102246
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author Hedges, Erin C.
Topp, Simon
Shaw, Christopher E.
Nishimura, Agnes L.
author_facet Hedges, Erin C.
Topp, Simon
Shaw, Christopher E.
Nishimura, Agnes L.
author_sort Hedges, Erin C.
collection PubMed
description Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of upper and lower motor neurons, causing gradual paralysis, and resulting in death 3–5 years from diagnosis. ALS causative mutations have been identified in multiple genes, including Fused in sarcoma (FUS), and recently characterized Annexin A11 (ANXA11). We have derived induced pluripotent stem cell (iPSC) lines from six ALS patient lymphoblastoid cell lines, three with mutations in FUS (Q519E, R521H, R522G), and three with mutations in ANXA11 (G38R, D40G, R235Q). These lines have been characterized and provide a novel resource for investigation into ALS pathology.
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spelling pubmed-79884632021-04-01 Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11 Hedges, Erin C. Topp, Simon Shaw, Christopher E. Nishimura, Agnes L. Stem Cell Res Lab Resource: Multiple Cell Lines Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of upper and lower motor neurons, causing gradual paralysis, and resulting in death 3–5 years from diagnosis. ALS causative mutations have been identified in multiple genes, including Fused in sarcoma (FUS), and recently characterized Annexin A11 (ANXA11). We have derived induced pluripotent stem cell (iPSC) lines from six ALS patient lymphoblastoid cell lines, three with mutations in FUS (Q519E, R521H, R522G), and three with mutations in ANXA11 (G38R, D40G, R235Q). These lines have been characterized and provide a novel resource for investigation into ALS pathology. Elsevier 2021-04 /pmc/articles/PMC7988463/ /pubmed/33610019 http://dx.doi.org/10.1016/j.scr.2021.102246 Text en © 2021 The Authors. Published by Elsevier B.V. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Lab Resource: Multiple Cell Lines
Hedges, Erin C.
Topp, Simon
Shaw, Christopher E.
Nishimura, Agnes L.
Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11
title Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11
title_full Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11
title_fullStr Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11
title_full_unstemmed Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11
title_short Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11
title_sort generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either fus or anxa11
topic Lab Resource: Multiple Cell Lines
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7988463/
https://www.ncbi.nlm.nih.gov/pubmed/33610019
http://dx.doi.org/10.1016/j.scr.2021.102246
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