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- Study Description
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- Talking Glossary of Genetic Terms
Deep sequencing was performed to analyze the prevalence of somatic mutations during in vitro cell aging. Primary dermal fibroblasts from healthy subjects of young and advanced age, from Hutchinson-Gilford progeria syndrome, and from Xeroderma Pigmentosum complementation group A (XPA) and C (XPC), were first restricted in number and then expanded in vitro. DNA was obtained from cells pre- and post-expansion and sequenced at high depth, over a cumulative 290 kb target region, including the exons of 44 aging-related genes. Allele frequencies of 58 somatic mutations differed between the pre- and post-cell culture expansion passages.
- Study Design:
- Cross-Sectional
- Study Type:
- Population
- dbGaP estimated ancestry using GRAF-pop
- Total number of consented subjects: 13
- Subject Sample Telemetry Report (SSTR)
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- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment Targeted Exome Sequencing Illumina HiSeq N/A N/A Targeted Exome Sequencing Roche NimbleGen SeqCap EZ Choice Library N/A N/A Targeted Genotyping Illumina HumanOmniExpress-12v1_H 730525 1059481 - Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Study Attribution
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Principal Investigator
- Michael Erdos, PhD. National Institutes of Health, Bethesda, MD, USA.
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Funding Sources
- 1-ZIA-HG000024. National Institutes of Health, Bethesda, MD, USA.
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Principal Investigator