Biesecker, Leslie (NHGRI)
Mullikin, James ("Jim") (NHGRI)
Johnston, Jennifer (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.
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.
First human cell lines available with this specific allele.