ID   GM28576
AC   CVCL_C7LW
SY   GM28576*C
DR   Coriell; GM28576
DR   Wikidata; Q117704438
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Trp308Ter (c.924G>A); ClinVar=VCV000013871; Zygosity=Unspecified; Note=De novo mutation (Coriell=GM28576).
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)
HI   CVCL_UT81 ! GM27190
SX   Female
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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