ID   GM27963
AC   CVCL_C7LG
DR   Coriell; GM27963
DR   Wikidata; Q117704358
CC   Sequence variation: Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Ser181Cysfs*5 (c.542_543delCT); ClinVar=VCV000217909; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27963).
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)
OI   CVCL_C7LH ! GM27967
SX   Female
AG   2Y
CA   Finite cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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