Dataset Information


EGAS00001000492-sc-20130423 - samples

ABSTRACT: In order to progress human induced pluripotent stem cells (hiPSCs) towards the clinic, several outstanding questions must be addressed. It is possible to reprogram different somatic cell types into hiPSCs but it is unlcear whether some cell types carry through fewer mutations through reprogramming (either due to mutations present in the primary cells, or mutations accumulated during reprogramming). Through in depth analysis of hiPSCs generated from different somatic cells, it will be possible to assess the variation in genetic stability of different cell types.

PROVIDER: EGAD00001000384 | EGA |


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Mutational History of a Human Cell Lineage from Somatic to Induced Pluripotent Stem Cells.

Rouhani Foad J FJ   Nik-Zainal Serena S   Wuster Arthur A   Li Yilong Y   Conte Nathalie N   Koike-Yusa Hiroko H   Kumasaka Natsuhiko N   Vallier Ludovic L   Yusa Kosuke K   Bradley Allan A  

PLoS genetics 20160407 4

The accuracy of replicating the genetic code is fundamental. DNA repair mechanisms protect the fidelity of the genome ensuring a low error rate between generations. This sustains the similarity of individuals whilst providing a repertoire of variants for evolution. The mutation rate in the human genome has recently been measured to be 50-70 de novo single nucleotide variants (SNVs) between generations. During development mutations accumulate in somatic cells so that an organism is a mosaic. Howe  ...[more]

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