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Cellosaurus GM27600 (CVCL_YN44)

[Text version]
Cell line name GM27600
Accession CVCL_YN44
Resource Identification Initiative To cite this cell line use: GM27600 (RRID:CVCL_YN44)
Comments Population: Caucasian; Spanish (Chilean).
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.Ile190Asn (c.569T>A); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27600).
Disease Rett syndrome, congenital variant (NCIt: C176903)
Atypical Rett syndrome (ORDO: Orphanet_3095)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A2SQ ! GM27871
Sex of cell Male
Age at sampling 1Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27600
Encyclopedic resources Wikidata; Q93933258
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9