ID   GM27643
AC   CVCL_YN48
DR   Coriell; GM27643
DR   Wikidata; Q93933270
CC   Sequence variation: Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Gln649Ter (c.1945C>T); ClinVar=VCV000217910; Zygosity=Heterozygous (Coriell=GM27643).
CC   Sequence variation: Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Val91Serfs*11 (c.269dupT); ClinVar=VCV000177737; Zygosity=Heterozygous (Coriell=GM27643).
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   8Y
CA   Transformed cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 8
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