Western Blot Analysis of ITPR1 Protein Levels in EBV Immortalized Lymphoblasts from AUS1 Family Members

<p>Western blot performed to examine ITPR1 levels in EBV immortalized lymphocytes from AUS1 affected family members carrying the <i>ITPR1</i> deletion and from an AUS1 family member of unknown disease status who does not carry the deletion. Notably the samples from patients with <i>ITPR1</i> deletion show a dramatic decrease in ITPR1 levels. To demonstrate equal loading, these samples were diluted one in five, and the Western blot was repeated using an antibody against ACTB.</p>