Technology ID
TAB-3645

Lymphoblastoid Cell Lines with a Specific Allele of ABCA7 Gene for the Screening of Small Molecules for Therapeutic Development

E-Numbers
E-147-2014-0
Lead Inventor
Biesecker, Leslie (National Human Genome Research Institute (NIH/NHGRI))
Co-Inventors
Mullikin, James ("Jim") (National Human Genome Research Institute (NIH/NHGRI))
Johnston, Jennifer (National Human Genome Research Institute (NIH/NHGRI))
Applications
Therapeutics
Research Materials
Therapeutic Areas
Ophthalmology
Oncology
Infectious Disease
Endocrinology
Dental
Cardiology
Lead IC
NHGRI
This technology includes lymphoblastoid cell lines from individuals genotyped as carrying the minor (G) allele of ABCA7 SNP rs113809142 [ss491752998; SNV-chr19-1007244], to be used for small molecule screening and eventual therapeutic development. The ABCA7 gene is the ATP-binding cassette, sub-family A (ABC1), member 7. It encodes a protein that is a transporter and has been associated with such diseases as neonatal respiratory failure and Asperger's syndrome. It is also known to play a role in phagocytosis of apoptotic cells by macrophages and may mediate cholesterol efflux.
Commercial Applications
These cell lines can be used to study the defects in ABCA7 gene and protein and screen small molecules for involvement in the diseases mediated by this gene.

Competitive Advantages
First human cell lines available with this specific allele.
Licensing Contact:
Campbell, Eggerton
eggerton.campbell@nih.gov