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CTNS mutations in publicly-available human cystinosis cell lines

Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information. During studies directed toward population frequency assessments...

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Detalles Bibliográficos
Autores principales: Zykovich, Artem, Kinkade, Renee, Royal, Gary, Zankel, Todd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471396/
https://www.ncbi.nlm.nih.gov/pubmed/28649545
http://dx.doi.org/10.1016/j.ymgmr.2015.10.007
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author Zykovich, Artem
Kinkade, Renee
Royal, Gary
Zankel, Todd
author_facet Zykovich, Artem
Kinkade, Renee
Royal, Gary
Zankel, Todd
author_sort Zykovich, Artem
collection PubMed
description Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information. During studies directed toward population frequency assessments of cystinosis, a rare heritable disorder, we sequenced the CTNS gene from 14 cystinosis-related samples obtained from the Coriell Cell Repository. As a result, the disease genotypes of 7 samples were determined for the first time. The reported disease genotypes of 2 additional samples were found to be incorrect. Furthermore, we identified and experimentally confirmed a novel mutation, c.225 + 5G > A, which causes skipping of the 5th exon and is associated with infantile nephropathic cystinosis.
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spelling pubmed-54713962017-06-23 CTNS mutations in publicly-available human cystinosis cell lines Zykovich, Artem Kinkade, Renee Royal, Gary Zankel, Todd Mol Genet Metab Rep Research Paper Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information. During studies directed toward population frequency assessments of cystinosis, a rare heritable disorder, we sequenced the CTNS gene from 14 cystinosis-related samples obtained from the Coriell Cell Repository. As a result, the disease genotypes of 7 samples were determined for the first time. The reported disease genotypes of 2 additional samples were found to be incorrect. Furthermore, we identified and experimentally confirmed a novel mutation, c.225 + 5G > A, which causes skipping of the 5th exon and is associated with infantile nephropathic cystinosis. Elsevier 2015-10-27 /pmc/articles/PMC5471396/ /pubmed/28649545 http://dx.doi.org/10.1016/j.ymgmr.2015.10.007 Text en © 2015 The Authors http://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/).
spellingShingle Research Paper
Zykovich, Artem
Kinkade, Renee
Royal, Gary
Zankel, Todd
CTNS mutations in publicly-available human cystinosis cell lines
title CTNS mutations in publicly-available human cystinosis cell lines
title_full CTNS mutations in publicly-available human cystinosis cell lines
title_fullStr CTNS mutations in publicly-available human cystinosis cell lines
title_full_unstemmed CTNS mutations in publicly-available human cystinosis cell lines
title_short CTNS mutations in publicly-available human cystinosis cell lines
title_sort ctns mutations in publicly-available human cystinosis cell lines
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471396/
https://www.ncbi.nlm.nih.gov/pubmed/28649545
http://dx.doi.org/10.1016/j.ymgmr.2015.10.007
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