ID   GM25974
AC   CVCL_JF38
DR   Coriell; GM25974
DR   Wikidata; Q54854036
CC   Sequence variation: Mutation; HGNC; HGNC:2745; DDX3X; Simple; p.Tyr462Ilefs*3 (c.1383dupA); dbSNP=rs796052228; Zygosity=Homozygous (Coriell=GM25974).
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: 15-05-17; Last updated: 19-12-24; Version: 12
//