ID   GM27848
AC   CVCL_YN63
DR   Coriell; GM27848
DR   Wikidata; Q93933305
CC   Population: Jewish.
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Gln86Profs*35 (c.256dupC); ClinVar=VCV000189613; Zygosity=Heterozygous (Coriell=GM27848).
CC   Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
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   6M
CA   Finite cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 11
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