ID   GM26075
AC   CVCL_LH22
DR   Coriell; GM26075
DR   Wikidata; Q54854069
CC   Sequence variation: Mutation; HGNC; HGNC:6770; SMAD4; Simple; c.1182_1197delAGGTGATGTTTGGGTC; Zygosity=Heterozygous (Coriell=GM26075).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123815; Myhre syndrome
DI   ORDO; Orphanet_2588; Myhre syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Transformed cell line
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 9
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