ID   GM23301
AC   CVCL_AZ45
SY   801-017 LCL
DR   Coriell; GM23301
DR   Wikidata; Q54852980
RX   PubMed=23495136;
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C88412; Autism spectrum disorder
DI   NCIt; C126692; Chromosome 15q11-q13 duplication syndrome
DI   ORDO; Orphanet_238446; 15q11q13 microduplication syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 29-06-23; Version: 7
//
RX   PubMed=23495136; DOI=10.1002/aur.1284; PMCID=PMC3884762;
RA   Urraca, Nora
RA   Cleary, Julie
RA   Brewer, Victoria
RA   Pivnick, Eniko K.
RA   McVicar, Kathryn
RA   Thibert, Ronald Laurent
RA   Schanen, N. Carolyn
RA   Esmer, Carmen
RA   Lamport, Dustin
RA   Reiter, Lawrence Todd
RT   "The interstitial duplication 15q11.2-q13 syndrome includes autism,
RT   mild facial anomalies and a characteristic EEG signature.";
RL   Autism Res. 6:268-279(2013).
//