Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene

Pompe disease is an autosomal recessive lysosomal storage disease caused by pathogenic variants in GAA, which encodes an enzyme integral to glycogen catabolism, acid α-glucosidase. Disease-relevant cell lines are necessary to evaluate the efficacy of genotype-specific therapies. Dermal fibroblasts f...

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Autores principales: Christensen, Chloe, Heckman, Perla, Rha, Allisandra, Kan, Shih-Hsin, Harb, Jerry, Wang, Raymond
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10281086/
https://www.ncbi.nlm.nih.gov/pubmed/37167752
http://dx.doi.org/10.1016/j.scr.2023.103117
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author Christensen, Chloe
Heckman, Perla
Rha, Allisandra
Kan, Shih-Hsin
Harb, Jerry
Wang, Raymond
author_facet Christensen, Chloe
Heckman, Perla
Rha, Allisandra
Kan, Shih-Hsin
Harb, Jerry
Wang, Raymond
author_sort Christensen, Chloe
collection PubMed
description Pompe disease is an autosomal recessive lysosomal storage disease caused by pathogenic variants in GAA, which encodes an enzyme integral to glycogen catabolism, acid α-glucosidase. Disease-relevant cell lines are necessary to evaluate the efficacy of genotype-specific therapies. Dermal fibroblasts from two patients presenting clinically with Pompe disease were reprogrammed to induced pluripotent stem cells using the Sendai viral method. One patient is compound heterozygous for the c.258dupC (p.N87QfsX9) frameshift mutation and the c.2227C>T (p.Q743X) nonsense mutation. The other patient harbors the c.−32–13T>G splice variant and the c.1826dupA (p.Y609X) frameshift mutation in compound heterozygosity.
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spelling pubmed-102810862023-06-20 Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene Christensen, Chloe Heckman, Perla Rha, Allisandra Kan, Shih-Hsin Harb, Jerry Wang, Raymond Stem Cell Res Article Pompe disease is an autosomal recessive lysosomal storage disease caused by pathogenic variants in GAA, which encodes an enzyme integral to glycogen catabolism, acid α-glucosidase. Disease-relevant cell lines are necessary to evaluate the efficacy of genotype-specific therapies. Dermal fibroblasts from two patients presenting clinically with Pompe disease were reprogrammed to induced pluripotent stem cells using the Sendai viral method. One patient is compound heterozygous for the c.258dupC (p.N87QfsX9) frameshift mutation and the c.2227C>T (p.Q743X) nonsense mutation. The other patient harbors the c.−32–13T>G splice variant and the c.1826dupA (p.Y609X) frameshift mutation in compound heterozygosity. 2023-06 2023-05-06 /pmc/articles/PMC10281086/ /pubmed/37167752 http://dx.doi.org/10.1016/j.scr.2023.103117 Text en https://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/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Christensen, Chloe
Heckman, Perla
Rha, Allisandra
Kan, Shih-Hsin
Harb, Jerry
Wang, Raymond
Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene
title Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene
title_full Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene
title_fullStr Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene
title_full_unstemmed Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene
title_short Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene
title_sort generation of two induced pluripotent stem cell lines (choci002-a and choci003-a) from pompe disease patients with compound heterozygous mutations in the gaa gene
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10281086/
https://www.ncbi.nlm.nih.gov/pubmed/37167752
http://dx.doi.org/10.1016/j.scr.2023.103117
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