ID   GM27616
AC   CVCL_A9QY
DR   Coriell; GM27616
DR   Wikidata; Q102113914
CC   Population: Caucasian; British.
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Asn232Ser (c.695A>G); ClinVar=VCV001698021; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27616).
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_A1UT ! GM27373
SX   Male
AG   20Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 9
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