ID   GM28007
AC   CVCL_B3SD
DR   Coriell; GM28007
DR   Wikidata; Q110432829
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Ile486Tyrfs*2 (c.1455dup); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28007).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   Male
AG   1Y2M
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 6
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