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Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation
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 RE...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317900/ https://www.ncbi.nlm.nih.gov/pubmed/30312871 http://dx.doi.org/10.1016/j.scr.2018.10.003 |