ID   GENYOi004-A
AC   CVCL_WM08
SY   ASD-PBMC1-iPS4F2; ASD-PBMC-iPS4F2
DR   BioSamples; SAMEA5679957
DR   hPSCreg; GENYOi004-A
DR   Wikidata; Q93560853
RX   PubMed=31035039;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Documento_deposito_lineas_iPS_ASD-PBMC1-iPS4F2.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centre for Genomics and Oncological Research (GENYO); Granada; Spain.
CC   Population: Caucasian; Spanish.
CC   HLA typing: A*03,24; B*35,55; DQA1*01,01; DQB1*05:03,05:03; DRB1*14:01,14:01 (PubMed=31035039).
CC   Sequence variation: Mutation; HGNC; HGNC:15766; ADNP; Simple; p.Tyr719Ter (c.2157C>G); ClinVar=VCV000139635; Zygosity=Heterozygous (PubMed=31035039).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 11
ST   D13S317: 9,10
ST   D16S539: 13
ST   D21S11: 28
ST   D5S818: 9,11
ST   D7S820: 8,12
ST   TH01: 8
ST   TPOX: 8,10
ST   vWA: 17
DI   NCIt; C160662; Intellectual developmental disorder, autosomal dominant 28
DI   ORDO; Orphanet_404448; ADNP syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 27-11-25; Version: 13
//
RX   PubMed=31035039; DOI=10.1016/j.scr.2019.101446;
RA   Montes, Rosa
RA   Mollinedo, Pilar
RA   Perales, Sonia
RA   Gonzalez-Lamuno, Domingo
RA   Ramos-Mejia, Veronica
RA   Fernandez-Luna, Jose L.
RA   Real, Pedro J.
RT   "GENYOi004-A: an induced pluripotent stem cells (iPSCs) line generated
RT   from a patient with autism-related ADNP syndrome carrying a pTyr719*
RT   mutation.";
RL   Stem Cell Res. 37:101446-101446(2019).
//