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Cellosaurus GM29309 (CVCL_D6WY)

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Cell line name GM29309
Synonyms GM29309*C
Accession CVCL_D6WY
Resource Identification Initiative To cite this cell line use: GM29309 (RRID:CVCL_D6WY)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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.Arg230Cys (c.688C>T); ClinVar=VCV000803013; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM29309).
  • Mutation; HGNC; HGNC:6111; IQGAP2; Simple; p.Gln953Ter (c.2857C>T); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM29309).
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_YE54 (GM27461)
Sex of cell Male
Age at sampling 3Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM29309
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2