ID   WMUi032-A
AC   CVCL_C0J8
DR   BioSamples; SAMEA13317175
DR   hPSCreg; WMUi032-A
DR   Wikidata; Q112930569
RX   PubMed=35489268;
CC   From: Wenzhou Medical University; Wenzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 12496; UBE3A; Simple; p.Asp583Gly (c.1748A>G) (p.Asp563Gly, c.1688A>G); ClinVar=VCV000160209; Zygosity=Heterozygous (PubMed=35489268).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75462; Angelman syndrome
DI   ORDO; Orphanet_411511; Angelman syndrome due to a point mutation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35489268; DOI=10.1016/j.scr.2022.102791;
RA   Li S.-S., Zhu Q.-Y., Cai Y.-Y., Yang Q.;
RT   "Generation of an induced pluripotent stem cell line from a patient
RT   with Angelman syndrome carrying UBE3A mutation.";
RL   Stem Cell Res. 62:102791-102791(2022).
//