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Cellosaurus GM27248 (CVCL_UT85)

[Text version]
Cell line name GM27248
Accession CVCL_UT85
Resource Identification Initiative To cite this cell line use: GM27248 (RRID:CVCL_UT85)
Comments Population: Caucasian; French and Chinese.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Gln86Profs*35 (c.256dupC); ClinVar=VCV000189613; Zygosity=Heterozygous (Coriell=GM27248).
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_UT84 ! GM27246
Sex of cell Female
Age at sampling 4Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27248
Encyclopedic resources Wikidata; Q93933118
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number12