ID   GM27192
AC   CVCL_YN29
DR   Coriell; GM27192
DR   Wikidata; Q93933065
CC   Sequence variation: Mutation; HGNC; HGNC:2745; DDX3X; Simple; p.Lys208Serfs*13 (c.623delA); ClinVar=VCV000432784; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27192).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129931; Mental retardation, X-linked 102
DI   ORDO; Orphanet_457260; X-linked intellectual disability-hypotonia-movement disorder syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7Y
CA   Finite cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
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