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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2015
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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. |
format | Online Article Text |
id | pubmed-5471396 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
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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