A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene

Pompe disease is an autosomal inherent genetic disease caused by mutations in the GAA gene that encodes acid alpha-glucosidase. The disease affects patients in heart, skeletal muscles, liver, and central nervous system. A human induced pluripotent stem cell (iPSC) line was generated from the skin de...

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Autores principales: Cheng, Yu-Shan, Li, Rong, Baskfield, Amanda, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Zheng, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658133/
https://www.ncbi.nlm.nih.gov/pubmed/31026687
http://dx.doi.org/10.1016/j.scr.2019.101435
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author Cheng, Yu-Shan
Li, Rong
Baskfield, Amanda
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Zheng, Wei
author_facet Cheng, Yu-Shan
Li, Rong
Baskfield, Amanda
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Zheng, Wei
author_sort Cheng, Yu-Shan
collection PubMed
description Pompe disease is an autosomal inherent genetic disease caused by mutations in the GAA gene that encodes acid alpha-glucosidase. The disease affects patients in heart, skeletal muscles, liver, and central nervous system. A human induced pluripotent stem cell (iPSC) line was generated from the skin dermal fibroblasts of a Pompe patient with homozygosity for a C.2560C > T (p.R854X) mutation in exon 18 of the GAA gene. This human iPSC line provides a useful resource for disease modeling and drug discovery.
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spelling pubmed-66581332019-07-25 A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene Cheng, Yu-Shan Li, Rong Baskfield, Amanda Beers, Jeanette Zou, Jizhong Liu, Chengyu Zheng, Wei Stem Cell Res Article Pompe disease is an autosomal inherent genetic disease caused by mutations in the GAA gene that encodes acid alpha-glucosidase. The disease affects patients in heart, skeletal muscles, liver, and central nervous system. A human induced pluripotent stem cell (iPSC) line was generated from the skin dermal fibroblasts of a Pompe patient with homozygosity for a C.2560C > T (p.R854X) mutation in exon 18 of the GAA gene. This human iPSC line provides a useful resource for disease modeling and drug discovery. 2019-04-11 2019-05 /pmc/articles/PMC6658133/ /pubmed/31026687 http://dx.doi.org/10.1016/j.scr.2019.101435 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
Cheng, Yu-Shan
Li, Rong
Baskfield, Amanda
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Zheng, Wei
A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene
title A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene
title_full A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene
title_fullStr A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene
title_full_unstemmed A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene
title_short A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene
title_sort human induced pluripotent stem cell line (trndi007-b) from an infantile onset pompe patient carrying p.r854x mutation in the gaa gene
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658133/
https://www.ncbi.nlm.nih.gov/pubmed/31026687
http://dx.doi.org/10.1016/j.scr.2019.101435
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