Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes

Fibroblasts from an amyotrophic lateral sclerosis patient with simultaneous mutations in the MATR3 gene and KIF5A gene were isolated and reprogrammed into induced pluripotent stem cells via a non-integrating Sendai viral vector. The generated iPSC clones demonstrated normal karyotype, expression of...

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Autores principales: Medina, David X., Boehringer, Ashley, Dominick, Marissa, Lorenzini, Ileana, Saez-Atienzar, Sara, Pioro, Erik P., Sattler, Rita, Traynor, Bryan, Bowser, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222416/
https://www.ncbi.nlm.nih.gov/pubmed/33388707
http://dx.doi.org/10.1016/j.scr.2020.102141
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author Medina, David X.
Boehringer, Ashley
Dominick, Marissa
Lorenzini, Ileana
Saez-Atienzar, Sara
Pioro, Erik P.
Sattler, Rita
Traynor, Bryan
Bowser, Robert
author_facet Medina, David X.
Boehringer, Ashley
Dominick, Marissa
Lorenzini, Ileana
Saez-Atienzar, Sara
Pioro, Erik P.
Sattler, Rita
Traynor, Bryan
Bowser, Robert
author_sort Medina, David X.
collection PubMed
description Fibroblasts from an amyotrophic lateral sclerosis patient with simultaneous mutations in the MATR3 gene and KIF5A gene were isolated and reprogrammed into induced pluripotent stem cells via a non-integrating Sendai viral vector. The generated iPSC clones demonstrated normal karyotype, expression of pluripotency markers, and the capacity to differentiate into three germ layers. The unique presence of two simultaneous mutations in ALS-associated genes represent a novel tool for the study of ALS disease mechanisms.
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spelling pubmed-82224162022-06-24 Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes Medina, David X. Boehringer, Ashley Dominick, Marissa Lorenzini, Ileana Saez-Atienzar, Sara Pioro, Erik P. Sattler, Rita Traynor, Bryan Bowser, Robert Stem Cell Res Article Fibroblasts from an amyotrophic lateral sclerosis patient with simultaneous mutations in the MATR3 gene and KIF5A gene were isolated and reprogrammed into induced pluripotent stem cells via a non-integrating Sendai viral vector. The generated iPSC clones demonstrated normal karyotype, expression of pluripotency markers, and the capacity to differentiate into three germ layers. The unique presence of two simultaneous mutations in ALS-associated genes represent a novel tool for the study of ALS disease mechanisms. 2020-12-24 /pmc/articles/PMC8222416/ /pubmed/33388707 http://dx.doi.org/10.1016/j.scr.2020.102141 Text en https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ).
spellingShingle Article
Medina, David X.
Boehringer, Ashley
Dominick, Marissa
Lorenzini, Ileana
Saez-Atienzar, Sara
Pioro, Erik P.
Sattler, Rita
Traynor, Bryan
Bowser, Robert
Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes
title Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes
title_full Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes
title_fullStr Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes
title_full_unstemmed Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes
title_short Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes
title_sort generation of two induced pluripotent stem cell (ipsc) lines from an als patient with simultaneous mutations in kif5a and matr3 genes
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222416/
https://www.ncbi.nlm.nih.gov/pubmed/33388707
http://dx.doi.org/10.1016/j.scr.2020.102141
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