ID   GM27461
AC   CVCL_YE54
DR   Coriell; GM27461
DR   Wikidata; Q93933246
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Arg230Cys (c.688C>T); ClinVar=VCV000803013; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27461).
CC   Sequence variation: Mutation; HGNC; HGNC:6111; IQGAP2; Simple; p.Gln953Ter (c.2857C>T); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27461).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C176903; Rett syndrome, congenital variant
DI   ORDO; Orphanet_3095; Atypical Rett syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UT83 ! GM27241
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 12
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