Cellosaurus logo
expasy logo

Cellosaurus GM27616 (CVCL_A9QY)

[Text][XML][JSON]
Cell line name GM27616
Accession CVCL_A9QY
Resource Identification Initiative To cite this cell line use: GM27616 (RRID:CVCL_A9QY)
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=GM27616).
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_YN47 (GM27629)
Originate from same individual CVCL_A1UT ! GM27373
Sex of cell Male
Age at sampling 20Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27616
Encyclopedic resources Wikidata; Q102113914
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number9