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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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Detalles Bibliográficos
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:
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
Descripción
Sumario: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.