ID   GM25994
AC   CVCL_JF42
DR   Coriell; GM25994
DR   Wikidata; Q54854059
CC   Sequence variation: Mutation; HGNC; HGNC:888; KIF1A; Simple; p.Gly484Ser (c.1450G>A); ClinVar=VCV000245898; Zygosity=Heterozygous (Coriell=GM25994).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C133742; Mental retardation, autosomal dominant 9
DI   ORDO; Orphanet_178469; Autosomal dominant non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6Y
CA   Finite cell line
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 12
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