ID   GM27353
AC   CVCL_XC49
DR   Coriell; GM27353
DR   Wikidata; Q93933176
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Arg497Ter (c.1489C>T); ClinVar=VCV000210050; Zygosity=Heterozygous (Coriell=GM27353).
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_XC48 ! GM27412
SX   Male
AG   1Y11M
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 11
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