ID   GM27612
AC   CVCL_A2QQ
DR   Coriell; GM27612
DR   Wikidata; Q105507197
CC   Population: Caucasian; British.
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Glu154Glyfs*301 (c.460dupG); ClinVar=VCV000095268; Zygosity=Heterozygous (Coriell=GM27612).
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)
SX   Female
AG   18Y
CA   Finite cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
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