ID   GM25952
AC   CVCL_IJ32
DR   Coriell; GM25952
DR   Wikidata; Q54854033
CC   Sequence variation: Mutation; HGNC; HGNC:2745; DDX3X; Simple; p.Gln417Pro (c.1250A>C); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM25952).
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   10Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
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