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Stem Cell Res. 2019 Apr 22;37:101446. doi: 10.1016/j.scr.2019.101446. [Epub ahead of print]

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

Author information

1
Gene Regulation, Stem Cells and Development Group, Department of Genomic Oncology, GENYO: Centre for Genomics and Oncological Research-Pfizer, University of Granada, Junta de Andalucía, PTS, 18016 Granada, Spain.
2
Genetics Unit, Hospital Valdecilla, 39008 Santander, Spain; Instituto de Investigación Valdecilla (IDIVAL), 39012 Santander, Spain.
3
Gene Regulation, Stem Cells and Development Group, Department of Genomic Oncology, GENYO: Centre for Genomics and Oncological Research-Pfizer, University of Granada, Junta de Andalucía, PTS, 18016 Granada, Spain; Department of Biochemistry and Molecular Biology I, Faculty of Science, University of Granada, 18016 Granada, Spain.
4
Instituto de Investigación Valdecilla (IDIVAL), 39012 Santander, Spain; Pediatrics Service, Hospital Valdecilla, 39008 Santander, Spain.
5
Genetics Unit, Hospital Valdecilla, 39008 Santander, Spain; Instituto de Investigación Valdecilla (IDIVAL), 39012 Santander, Spain. Electronic address: joseluis.fernandezl@scsalud.es.
6
Gene Regulation, Stem Cells and Development Group, Department of Genomic Oncology, GENYO: Centre for Genomics and Oncological Research-Pfizer, University of Granada, Junta de Andalucía, PTS, 18016 Granada, Spain; Department of Biochemistry and Molecular Biology I, Faculty of Science, University of Granada, 18016 Granada, Spain. Electronic address: pedro.real@genyo.es.

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.

PMID:
31035039
DOI:
10.1016/j.scr.2019.101446
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