ID   GM27881
AC   CVCL_A2TC
SY   GM27881*C; 1123-FOXG1-LOF-Hom#B7
DR   Coriell; GM27881
DR   Wikidata; Q105507384
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple_edited; p.Phe18Thrfs*188 (c.49_58delTCGTTCAGCA); Zygosity=Homozygous; Note=By CRISPR/Cas9 (Coriell=GM27881).
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)
HI   CVCL_A2TY ! S1123-01 iPS #3
SX   Male
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
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