Derivation and characterization of the induced pluripotent stem cell line CUIMCi004-A from a patient with a novel frameshift variant in exon 18a of OCRL
Summary
OCRL encodes for an inositol polyphosphate 5-phosphatase, located in the trans-Golgi network, endosomes, endocytic clathrin-coated pits, primary cilia. Mutations in OCRL causes Lowe syndrome (LS), a rare and complex disorder characterized by congenital cataracts, renal tubular dysfunction, and mental retardation. Here we generated an induced pluripotent stem cell (iPSC) line from Peripheral Blood Mononuclear Cell (PBMCs) of a 5-year-old boy with severe obesity carrying a novel pathogenic variant in the brain-expressed isoform of OCRL. The Sendai virus approach was used for reprogramming. The iPSC line CUIMCi004-A may serve as a useful resource to further investigate the tissue-specific function of OCRL. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Iannello G, Patel A, Sirabella D, Corneo B, Thaker VV |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Mar;59:102635 |
| PubMed | 35074682 |
| PubMed Central | PMC9970692 |
| DOI | 10.1016/j.scr.2021.102635 |