ID   GM21284
AC   CVCL_EF99
DR   Coriell; GM21284
DR   Wikidata; Q54851759
CC   Sequence variation: Mutation; HGNC; HGNC:1149; BUB1B; Simple; p.Ser738Valfs*16 (c.2208_2211dupGTTA) (2212insGTTA); ClinVar=VCV000006763; Zygosity=Heterozygous (Coriell=GM21284).
CC   Sequence variation: Mutation; HGNC; HGNC:1149; BUB1B; Simple; p.Arg814His (c.2441G>A); ClinVar=VCV000006764; Zygosity=Heterozygous (Coriell=GM21284).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C128192; Mosaic variegated aneuploidy syndrome 1
DI   ORDO; Orphanet_1052; Mosaic variegated aneuploidy syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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