ID   GM28574
AC   CVCL_D2ZG
SY   GM28574*E
DR   Coriell; GM28574
DR   Wikidata; Q127380920
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=GM28574).
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)
HI   CVCL_UT84 ! GM27246
SX   Female
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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