RT Journal Article
T1 GENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutation.
A1 Montes, Rosa
A1 Mollinedo, Pilar
A1 Perales, Sonia
A1 Gonzalez-Lamuño, Domingo
A1 Ramos-Mejía, Veronica
A1 Fernandez-Luna, Jose L
A1 Real, Pedro J
AB 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.
YR 2019
FD 2019-04-22
LK http://hdl.handle.net/10668/13890
UL http://hdl.handle.net/10668/13890
LA en
DS RISalud
RD Apr 11, 2025