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

ABSTRACT: 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.

SUBMITTER: Gagne AL

PROVIDER: S-EPMC7885123 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

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

Gagne Alyssa L AL Maguire Jean Ann JA Gandre-Babbe Shilpa S Chou Stella T ST Tasian Sarah K SK Loh Mignon L ML Weiss Mitchell J MJ Gadue Paul P French Deborah L DL

Stem cell research 20180705

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. ...[more]

PMID: 30096712

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