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Cellosaurus GM28578 (CVCL_C7LY)

[Text version]
Cell line name GM28578
Synonyms GM28578*C
Accession CVCL_C7LY
Resource Identification Initiative To cite this cell line use: GM28578 (RRID:CVCL_C7LY)
Comments Population: Caucasian; French.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Ser326Glufs*129 (c.974_975insA); Zygosity=Heterozygous (Coriell=GM28578).
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_YE51 (GM27462)
Sex of cell Male
Age at sampling 7Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM28578
Encyclopedic resources Wikidata; Q117704440
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4