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Cellosaurus GM27246 (CVCL_UT84)

[Text version]
Cell line name GM27246
Accession CVCL_UT84
Resource Identification Initiative To cite this cell line use: GM27246 (RRID:CVCL_UT84)
Comments Population: Caucasian; French and Chinese.
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.Gln86Profs*35 (c.256dupC); ClinVar=VCV000189613; Zygosity=Heterozygous (Coriell=GM27246).
Disease Rett syndrome, congenital variant (NCIt: C176903)
Atypical Rett syndrome (ORDO: Orphanet_3095)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D2ZG (GM28574)
Originate from same individual CVCL_UT85 ! GM27248
Sex of cell Female
Age at sampling 4Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27246
Encyclopedic resources Wikidata; Q93933116
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number13