ID   GM25456
AC   CVCL_BA17
DR   Coriell; GM25456
DR   Wikidata; Q54853980
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; c.62+1delGT; Zygosity=Unspecified; Note=De novo mutation (Coriell=GM25456).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75488; Rett syndrome
DI   ORDO; Orphanet_778; Rett syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_BA16 ! GM25455
SX   Female
AG   18Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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