Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation.
Stem Cell Res
; 33: 36-40, 2018 12.
Article
em En
| MEDLINE
| ID: mdl-30312871
ABSTRACT
The DNA helicase RECQL4 is known for its roles in DNA replication and repair. RECQL4 mutations cause several genetic disorders including Rothmund-Thomson syndrome (RTS), characterized by developmental defects and predisposition to osteosarcoma. Here we reprogrammed fibroblasts with a heterozygous RECQL4 mutation (c.1878â¯+â¯32_1878â¯+â¯55del24) to induced pluripotent stem cells (iPSCs). These iPSCs are pluripotent and are able to be differentiated into all three germ layers, providing a novel tool to further interrogate the role of RECQL4 DNA helicase in vitro.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
RecQ Helicases
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Células-Tronco Pluripotentes Induzidas
Limite:
Adult
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Female
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Humans
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article