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Cellosaurus GM27629 (CVCL_YN47)

[Text version]
Cell line name GM27629
Synonyms GM27629*A
Accession CVCL_YN47
Resource Identification Initiative To cite this cell line use: GM27629 (RRID:CVCL_YN47)
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.Asn232Ser (c.695A>G); ClinVar=VCV001698021; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27629).
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_A9QY (GM27616)
Sex of cell Male
Age at sampling 20Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27629
Encyclopedic resources Wikidata; Q93933267
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number11