ID   GM24206
AC   CVCL_AY98
DR   Coriell; GM24206
DR   Wikidata; Q54853625
CC   Population: Native North American.
CC   Sequence variation: Mutation; HGNC; HGNC:12496; UBE3A; Simple; p.Thr126Lys (c.377C>A) (p.Thr106Lys, c.317C>A); ClinVar=VCV000155994; Zygosity=Unspecified (Coriell=GM24206).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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   Male
AG   5Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
//