Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene

Mucopolysaccharidosis Type II (MRS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S). This is a multisystem disorder with significant variation in symptoms. Here, we document a human induced pluripotent ste...

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Autores principales: Hong, Junjie, Xu, Miao, Li, Rong, Cheng, Yu-Shan, Kouznetsova, Jennifer, Beers, Jeanette, Liu, Chengyu, Zou, Jizhong, Zheng, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642610/
https://www.ncbi.nlm.nih.gov/pubmed/31071499
http://dx.doi.org/10.1016/j.scr.2019.101451
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author Hong, Junjie
Xu, Miao
Li, Rong
Cheng, Yu-Shan
Kouznetsova, Jennifer
Beers, Jeanette
Liu, Chengyu
Zou, Jizhong
Zheng, Wei
author_facet Hong, Junjie
Xu, Miao
Li, Rong
Cheng, Yu-Shan
Kouznetsova, Jennifer
Beers, Jeanette
Liu, Chengyu
Zou, Jizhong
Zheng, Wei
author_sort Hong, Junjie
collection PubMed
description Mucopolysaccharidosis Type II (MRS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S). This is a multisystem disorder with significant variation in symptoms. Here, we document a human induced pluripotent stem cell (iPSC) line generated from dermal fibroblasts of a patient with Hunter syndrome containing a hemizygous mutation of a 1 bp insertion at nucleotide 208 in exon 2 of the IDS gene. The generation of this line will allow development of cell-based models for drug development, as well as the study of disease pathophysiology.
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spelling pubmed-66426102019-07-20 Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene Hong, Junjie Xu, Miao Li, Rong Cheng, Yu-Shan Kouznetsova, Jennifer Beers, Jeanette Liu, Chengyu Zou, Jizhong Zheng, Wei Stem Cell Res Article Mucopolysaccharidosis Type II (MRS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S). This is a multisystem disorder with significant variation in symptoms. Here, we document a human induced pluripotent stem cell (iPSC) line generated from dermal fibroblasts of a patient with Hunter syndrome containing a hemizygous mutation of a 1 bp insertion at nucleotide 208 in exon 2 of the IDS gene. The generation of this line will allow development of cell-based models for drug development, as well as the study of disease pathophysiology. 2019-04-25 2019-05 /pmc/articles/PMC6642610/ /pubmed/31071499 http://dx.doi.org/10.1016/j.scr.2019.101451 Text en https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/BY/4.0/ (https://creativecommons.org/licenses/by/4.0/) ).
spellingShingle Article
Hong, Junjie
Xu, Miao
Li, Rong
Cheng, Yu-Shan
Kouznetsova, Jennifer
Beers, Jeanette
Liu, Chengyu
Zou, Jizhong
Zheng, Wei
Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene
title Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene
title_full Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene
title_fullStr Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene
title_full_unstemmed Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene
title_short Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene
title_sort generation of an induced pluripotent stem cell line (trndi008-a) from a hunter syndrome patient carrying a hemizygous 208insc mutation in the ids gene
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642610/
https://www.ncbi.nlm.nih.gov/pubmed/31071499
http://dx.doi.org/10.1016/j.scr.2019.101451
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