ID   GM27638
AC   CVCL_ZH91
DR   Coriell; GM27638
DR   Wikidata; Q98126512
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Tyr709Ter (c.2127T>G); ClinVar=VCV000523879; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27638).
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   3Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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