A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene.
Stem Cell Res
; 37: 101435, 2019 05.
Article
en En
| MEDLINE
| ID: mdl-31026687
ABSTRACT
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.2560Câ¯>â¯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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Teratoma
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Enfermedad del Almacenamiento de Glucógeno Tipo II
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Diferenciación Celular
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Alfa-Glucosidasas
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Células Madre Pluripotentes Inducidas
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Fibroblastos
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Mutación
Límite:
Animals
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Humans
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Infant
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Male
Idioma:
En
Revista:
Stem Cell Res
Año:
2019
Tipo del documento:
Article
País de afiliación:
Estados Unidos