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Cellosaurus GM27186 (CVCL_A2QA)

[Text version]
Cell line name GM27186
Accession CVCL_A2QA
Resource Identification Initiative To cite this cell line use: GM27186 (RRID:CVCL_A2QA)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Lys171Argfs*63 (c.512delA); Zygosity=Heterozygous (Coriell=GM27186).
Disease Pitt-Hopkins syndrome (NCIt: C129872)
Pitt-Hopkins syndrome (ORDO: Orphanet_2896)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 17Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27186
Encyclopedic resources Wikidata; Q105507098
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7