De Novo Chromosome Copy Number Variation in Fanconi Anemia-Associated Hematopoietic Defects
Abstract
During the first year of the funding period 04/01/2011 until present, we have devoted the majority of our efforts towards obtaining pairs of mutant and functionally corrected telomerase-immortalized (hTERT) Fanconi anemia patient-derived fibroblast lines. Specifically, we have focused on the following FA complementation groups: FA-A, FA-G, and FA-D2. For the FA-D2 complementation group, we have obtained two pairs of mutant and corrected lines from collaborators. We have subsequently hTERT-immortalized these pairs during the funding period. For the FA-A complementation group, we had previously generated hTERT-immortalized mutant and corrected lines. During the funding period we have performed numerous functional assays, including mitomycin C cytotoxicity, clastogenicity, and G2-M accumulation assays, to confirm functional correction. For the FA-G complementation group, we purchased a primary FA-G line from Coriell Cell Repositories, hTERT-immortalized this line, generated a stable line expressing FANCG and are currently in the process of performing functional assays to confirm functional correction. In addition, for all of these mutant and corrected lines we are in the process of generating monoclonal cell populations to control for heterogeneity in pre-existing copy number variation within polyclonal cell populations.
Document Details
- Document Type
- Technical Report
- Publication Date
- Apr 01, 2012
- Accession Number
- ADA563377
Entities
People
- Niall G. Howlett
Organizations
- University of Rhode Island