ID   GM27255
AC   CVCL_UT86
DR   Coriell; GM27255
DR   Wikidata; Q93933132
CC   Population: Caucasian; Dutch.
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Tyr208Cys (c.623A>G); Zygosity=Heterozygous (Coriell=GM27255).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
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_A1UW ! GM27379
SX   Male
AG   2Y2M
CA   Finite cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
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