ID   GM24207
AC   CVCL_AY99
DR   Coriell; GM24207
DR   Wikidata; Q54853626
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=GM24207).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   38Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
//