Buscar

 Detalle_Publicacion

GENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutation

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.

 Fuente: Stem Cell Res. 2019 May;37:101446

Editorial: Elsevier

 Año de publicación: 2019

Nº de páginas: 5

Tipo de publicación: Artículo de Revista

DOI: 10.1016/j.scr.2019.101446

ISSN: 1873-5061,1876-7753

Url de la publicación: https://doi.org/10.1016/j.scr.2019.101446

Autores/as

MONTES, ROSA

MOLLINEDO, PILAR

RAMOS-MEJÍA, VERONICA

FERNANDEZ-LUNA, JOSE L.

REAL, PEDRO J.