Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene.
Stem Cell Res
; 39: 101503, 2019 08.
Article
en En
| MEDLINE
| ID: mdl-31349202
ABSTRACT
A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with nonketotic hyperglycinemia bearing the biallelic changes c.1742Câ¯>â¯G (p.Pro581Arg) and c.2368Câ¯>â¯T (p.Arg790Trp) in the GLDC gene. Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability. This cellular model provides a good resource for disease modeling and drug discovery.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hiperglicinemia no Cetósica
/
Células Madre Pluripotentes Inducidas
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Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Humans
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Male
/
Newborn
Idioma:
En
Revista:
Stem Cell Res
Año:
2019
Tipo del documento:
Article