ID   GM27973
AC   CVCL_A2TS
DR   Coriell; GM27973
DR   Wikidata; Q105507424
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Gly169Glyfs*23 (c.507del); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27973).
CC   Sequence variation: Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Arg303His (c.908G>A); ClinVar=VCV000284411; Zygosity=Heterozygous (Coriell=GM27973).
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   Male
AG   8M
CA   Finite cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
//