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Cellosaurus GM28299 (CVCL_B5LC)

[Text version]
Cell line name GM28299
Accession CVCL_B5LC
Resource Identification Initiative To cite this cell line use: GM28299 (RRID:CVCL_B5LC)
Comments Population: Jewish; Ashkenazi and Jewish; Moroccan.
Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Gly237Valfs*11 (c.710delG) (p.Gly249Valfs*11, c.746delG); ClinVar=VCV000011846; Zygosity=Heterozygous (Coriell=GM28299).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_B5LD ! GM28300
Sex of cell Female
Age at sampling 11Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28299
Encyclopedic resources Wikidata; Q111733241
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number6