ID   GM27246
AC   CVCL_UT84
DR   Coriell; GM27246
DR   Wikidata; Q93933116
CC   Population: Caucasian; French and Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Gln86Profs*35 (c.256dupC); ClinVar=VCV000189613; Zygosity=Heterozygous (Coriell=GM27246).
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_UT85 ! GM27248
SX   Female
AG   4Y
CA   Finite cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 13
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