Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL

Juvenile myelomonocytic leukemia (JMML) is a rare myeloproliferative disorder of early childhood characterized by expansion of clonal myelomonocytic cells and hyperactive Ras/MAPK signaling. The disorder is caused by somatic and/or germline mutations in genes involved in the Ras/MAPK and JAK/STAT si...

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Autores principales: Gagne, Alyssa L., Maguire, Jean Ann, Gandre-Babbe, Shilpa, Chou, Stella T., Tasian, Sarah K., Loh, Mignon L., Weiss, Mitchell J., Gadue, Paul, French, Deborah L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7885123/
https://www.ncbi.nlm.nih.gov/pubmed/30096712
http://dx.doi.org/10.1016/j.scr.2018.07.001
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author Gagne, Alyssa L.
Maguire, Jean Ann
Gandre-Babbe, Shilpa
Chou, Stella T.
Tasian, Sarah K.
Loh, Mignon L.
Weiss, Mitchell J.
Gadue, Paul
French, Deborah L.
author_facet Gagne, Alyssa L.
Maguire, Jean Ann
Gandre-Babbe, Shilpa
Chou, Stella T.
Tasian, Sarah K.
Loh, Mignon L.
Weiss, Mitchell J.
Gadue, Paul
French, Deborah L.
author_sort Gagne, Alyssa L.
collection PubMed
description Juvenile myelomonocytic leukemia (JMML) is a rare myeloproliferative disorder of early childhood characterized by expansion of clonal myelomonocytic cells and hyperactive Ras/MAPK signaling. The disorder is caused by somatic and/or germline mutations in genes involved in the Ras/MAPK and JAK/STAT signaling pathways, including CBL. Here we describe the generation of an iPSC line with a homozygous CBL c.1111T- > C (Y371H) mutation, designated CHOPJMML1854.
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spelling pubmed-78851232021-02-16 Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL Gagne, Alyssa L. Maguire, Jean Ann Gandre-Babbe, Shilpa Chou, Stella T. Tasian, Sarah K. Loh, Mignon L. Weiss, Mitchell J. Gadue, Paul French, Deborah L. Stem Cell Res Article Juvenile myelomonocytic leukemia (JMML) is a rare myeloproliferative disorder of early childhood characterized by expansion of clonal myelomonocytic cells and hyperactive Ras/MAPK signaling. The disorder is caused by somatic and/or germline mutations in genes involved in the Ras/MAPK and JAK/STAT signaling pathways, including CBL. Here we describe the generation of an iPSC line with a homozygous CBL c.1111T- > C (Y371H) mutation, designated CHOPJMML1854. 2018-07-05 2018-08 /pmc/articles/PMC7885123/ /pubmed/30096712 http://dx.doi.org/10.1016/j.scr.2018.07.001 Text en https://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/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Gagne, Alyssa L.
Maguire, Jean Ann
Gandre-Babbe, Shilpa
Chou, Stella T.
Tasian, Sarah K.
Loh, Mignon L.
Weiss, Mitchell J.
Gadue, Paul
French, Deborah L.
Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL
title Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL
title_full Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL
title_fullStr Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL
title_full_unstemmed Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL
title_short Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL
title_sort generation of a human juvenile myelomonocytic leukemia ipsc line, chopi001-a, with a mutation in cbl
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7885123/
https://www.ncbi.nlm.nih.gov/pubmed/30096712
http://dx.doi.org/10.1016/j.scr.2018.07.001
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