Cellosaurus logo
expasy logo

Cellosaurus GM27622 (CVCL_YN46)

[Text version]
Cell line name GM27622
Synonyms GM27622*A
Accession CVCL_YN46
Resource Identification Initiative To cite this cell line use: GM27622 (RRID:CVCL_YN46)
Comments Population: Caucasian; British.
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=GM27622).
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_YN45 (GM27614)
Sex of cell Male
Age at sampling 5Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27622
Encyclopedic resources Wikidata; Q93933265
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number10