ID   GM27912
AC   CVCL_A9ZJ
DR   Coriell; GM27912
DR   Wikidata; Q102113945
CC   Sequence variation: Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Gln657Ter (c.1969C>T); ClinVar=VCV000217916; Zygosity=Heterozygous (Coriell=GM27912).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C163754; Mental retardation, autosomal dominant 40
DI   ORDO; Orphanet_178469; Autosomal dominant non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   16Y
CA   Transformed cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
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