GENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutation.
Stem Cell Res
; 37: 101446, 2019 05.
Article
en En
| MEDLINE
| ID: mdl-31035039
ABSTRACT
ADNP syndrome is an intellectual disability associated with Autism spectrum disorder caused by mutations in ADNP. We generated an iPSC line from an ADNP syndrome pediatric patient harboring the mutation p.Trp719* (GENYOi004-A). Peripheral blood mononuclear cells were reprogrammed using a non-transmissible form of Sendai viruses expressing the four Yamanaka factors (Oct3/4, SOX2, KLF4 and c-MYC). Characterization of GENYOi004-A included mutation analysis of ADNP by allele-specific PCR, genetic identity by Short Tandem Repeats polymorphism profiling, alkaline phosphatase enzymatic activity, expression of pluripotency-associated factors and pluripotency studies in vivo. GENYOi004-A will be useful to evaluate ADNP syndrome alterations at early developmental stages.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Teratoma
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Leucocitos Mononucleares
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Diferenciación Celular
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Proteínas de Homeodominio
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Células Madre Pluripotentes Inducidas
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Trastorno del Espectro Autista
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Mutación
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Proteínas del Tejido Nervioso
Límite:
Animals
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Child
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Female
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Humans
Idioma:
En
Revista:
Stem Cell Res
Año:
2019
Tipo del documento:
Article
País de afiliación:
España