ID   GM27648
AC   CVCL_ZW63
DR   Coriell; GM27648
DR   Wikidata; Q102113923
CC   Sequence variation: Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Lys618Glufs*13 (c.1850dupA); ClinVar=VCV000280855; Zygosity=Heterozygous (Coriell=GM27648).
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   4Y
CA   Transformed cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
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