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

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 menta...

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Detalles Bibliográficos
Autores principales: Iannello, Grazia, Patel, Achchhe, Sirabella, Dario, Corneo, Barbara, Thaker, Vidhu V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9970692/
https://www.ncbi.nlm.nih.gov/pubmed/35074682
http://dx.doi.org/10.1016/j.scr.2021.102635
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author Iannello, Grazia
Patel, Achchhe
Sirabella, Dario
Corneo, Barbara
Thaker, Vidhu V.
author_facet Iannello, Grazia
Patel, Achchhe
Sirabella, Dario
Corneo, Barbara
Thaker, Vidhu V.
author_sort Iannello, Grazia
collection PubMed
description 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.
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spelling pubmed-99706922023-06-23 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 Iannello, Grazia Patel, Achchhe Sirabella, Dario Corneo, Barbara Thaker, Vidhu V. Stem Cell Res Article 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. 2022-03 2021-12-23 /pmc/articles/PMC9970692/ /pubmed/35074682 http://dx.doi.org/10.1016/j.scr.2021.102635 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Iannello, Grazia
Patel, Achchhe
Sirabella, Dario
Corneo, Barbara
Thaker, Vidhu V.
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9970692/
https://www.ncbi.nlm.nih.gov/pubmed/35074682
http://dx.doi.org/10.1016/j.scr.2021.102635
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