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Cellosaurus GM27881 (CVCL_A2TC)

[Text version]
Cell line name GM27881
Synonyms GM27881*C; 1123-FOXG1-LOF-Hom#B7
Accession CVCL_A2TC
Resource Identification Initiative To cite this cell line use: GM27881 (RRID:CVCL_A2TC)
Comments Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3811; FOXG1; Simple_edited; p.Phe18Thrfs*188 (c.49_58delTCGTTCAGCA); Zygosity=Homozygous; Note=By CRISPR/Cas9 (Coriell=GM27881).
Disease Rett syndrome, congenital variant (NCIt: C176903)
Atypical Rett syndrome (ORDO: Orphanet_3095)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A2TY (S1123-01 iPS #3)
Sex of cell Male
Age at sampling 52Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27881
Encyclopedic resources Wikidata; Q105507384
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7